Q6P4T2 · U520_MOUSE
- ProteinU5 small nuclear ribonucleoprotein 200 kDa helicase
- GeneSnrnp200
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids2136 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388590961 | 40 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127050967T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127050967T>A Locations: - p.Val40Asp (Ensembl:ENSMUST00000103220) - c.119T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588874 | 49 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.127050994G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127050994G>A Locations: - p.Gly49Glu (Ensembl:ENSMUST00000103220) - c.146G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585592 | 58 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127051020C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127051020C>T Locations: - p.Arg58Trp (Ensembl:ENSMUST00000103220) - c.172C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588868 | 137 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127053547G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127053547G>T Locations: - p.Asp137Tyr (Ensembl:ENSMUST00000103220) - c.409G>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388576401 | 155 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127053601C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127053601C>T Locations: - p.Arg155Trp (Ensembl:ENSMUST00000103220) - c.463C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591783 | 165 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000068.8:g.127053631G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127053631G>A Locations: - p.Asp165Asn (Ensembl:ENSMUST00000103220) - c.493G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588506 | 347 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.127058590T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127058590T>G Locations: - p.Val347Gly (Ensembl:ENSMUST00000103220) - c.1040T>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388576361 | 367 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000068.8:g.127058650A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127058650A>G Locations: - p.Glu367Gly (Ensembl:ENSMUST00000103220) - c.1100A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581838 | 392 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000068.8:g.127059205A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059205A>T Locations: - p.Glu392Asp (Ensembl:ENSMUST00000103220) - c.1176A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581423 | 415 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127059352T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059352T>A Locations: - p.Val415Asp (Ensembl:ENSMUST00000103220) - c.1244T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589394 | 479 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127059851A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059851A>T Locations: - p.Lys479Ile (Ensembl:ENSMUST00000103220) - c.1436A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591041 | 492 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000068.8:g.127059889G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059889G>A Locations: - p.Ala492Thr (Ensembl:ENSMUST00000103220) - c.1474G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592171 | 502 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127059920G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059920G>A Locations: - p.Cys502Tyr (Ensembl:ENSMUST00000103220) - c.1505G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587194 | 505 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127059929C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127059929C>G Locations: - p.Thr505Ser (Ensembl:ENSMUST00000103220) - c.1514C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592237 | 508 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127060280G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127060280G>A Locations: - p.Gly508Asp (Ensembl:ENSMUST00000103220) - c.1523G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581425 | 518 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127060309C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127060309C>T Locations: - p.Leu518Phe (Ensembl:ENSMUST00000103220) - c.1552C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588863 | 543 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127060384C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127060384C>T Locations: - p.Pro543Ser (Ensembl:ENSMUST00000103220) - c.1627C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587557 | 572 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127060991G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127060991G>A Locations: - p.Asp572Asn (Ensembl:ENSMUST00000103220) - c.1714G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581450 | 575 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127061000C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127061000C>G Locations: - p.Leu575Val (Ensembl:ENSMUST00000103220) - c.1723C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589364 | 578 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.127061011G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127061011G>T Locations: - p.Glu578Asp (Ensembl:ENSMUST00000103220) - c.1734G>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592132 | 582 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127061022C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127061022C>T Locations: - p.Ala582Val (Ensembl:ENSMUST00000103220) - c.1745C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388576391 | 617 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127063672T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127063672T>A Locations: - p.Ile617Asn (Ensembl:ENSMUST00000103220) - c.1850T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588857 | 623 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.127063689G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127063689G>A Locations: - p.Asp623Asn (Ensembl:ENSMUST00000103220) - c.1867G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388582125 | 642 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.127063747C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127063747C>G Locations: - p.Thr642Ser (Ensembl:ENSMUST00000103220) - c.1925C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587241 | 659 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127063798A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127063798A>T Locations: - p.Glu659Val (Ensembl:ENSMUST00000103220) - c.1976A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392199099 | 668 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127063825A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127063825A>G Locations: - p.Asp668Gly (Ensembl:ENSMUST00000103220) - c.2003A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592164 | 689 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.127064081T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.127064081T>A Locations: - p.Tyr689Ter (Ensembl:ENSMUST00000103220) - c.2067T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588915 | 712 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127064148A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127064148A>T Locations: - p.Ile712Phe (Ensembl:ENSMUST00000103220) - c.2134A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592234 | 713 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127064152T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127064152T>A Locations: - p.Met713Lys (Ensembl:ENSMUST00000103220) - c.2138T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592198 | 716 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127064161C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127064161C>T Locations: - p.Ala716Val (Ensembl:ENSMUST00000103220) - c.2147C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581372 | 776 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127067018G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127067018G>A Locations: - p.Asp776Asn (Ensembl:ENSMUST00000103220) - c.2326G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581451 | 808 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127067927T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127067927T>A Locations: - p.Val808Asp (Ensembl:ENSMUST00000103220) - c.2423T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585614 | 829 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.127067989A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.127067989A>T Locations: - p.Lys829Ter (Ensembl:ENSMUST00000103220) - c.2485A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585633 | 846 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127068041C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127068041C>T Locations: - p.Ala846Val (Ensembl:ENSMUST00000103220) - c.2537C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388582126 | 866 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127068259A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127068259A>T Locations: - p.Glu866Asp (Ensembl:ENSMUST00000103220) - c.2598A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589948 | 901 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127068362C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127068362C>T Locations: - p.Leu901Phe (Ensembl:ENSMUST00000103220) - c.2701C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587200 | 902 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127068365A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127068365A>G Locations: - p.Asn902Asp (Ensembl:ENSMUST00000103220) - c.2704A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589595 | 930 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127068910C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127068910C>T Locations: - p.Leu930Phe (Ensembl:ENSMUST00000103220) - c.2788C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581810 | 992 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127069830T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127069830T>A Locations: - p.Tyr992Asn (Ensembl:ENSMUST00000103220) - c.2974T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588453 | 1006 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127069873A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127069873A>T Locations: - p.Lys1006Met (Ensembl:ENSMUST00000103220) - c.3017A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392172853 | 1066 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127070483T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127070483T>A Locations: - p.Phe1066Ile (Ensembl:ENSMUST00000103220) - c.3196T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3410870040 | 1077 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127070517T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127070517T>A Locations: - p.Leu1077Gln (Ensembl:ENSMUST00000103220) - c.3230T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388581812 | 1081 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127070529T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127070529T>C Locations: - p.Met1081Thr (Ensembl:ENSMUST00000103220) - c.3242T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589965 | 1095 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127071003A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071003A>T Locations: - p.Ile1095Phe (Ensembl:ENSMUST00000103220) - c.3283A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388583004 | 1122 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127071406G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071406G>A Locations: - p.Met1122Ile (Ensembl:ENSMUST00000103220) - c.3366G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588897 | 1127 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127071420G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071420G>A Locations: - p.Cys1127Tyr (Ensembl:ENSMUST00000103220) - c.3380G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392158841 | 1137 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127071449G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071449G>C Locations: - p.Glu1137Gln (Ensembl:ENSMUST00000103220) - c.3409G>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589318 | 1148 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127071482T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071482T>G Locations: - p.Phe1148Val (Ensembl:ENSMUST00000103220) - c.3442T>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585605 | 1152 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127071495G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071495G>C Locations: - p.Arg1152Pro (Ensembl:ENSMUST00000103220) - c.3455G>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587537 | 1175 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127071846C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071846C>A Locations: - p.His1175Gln (Ensembl:ENSMUST00000103220) - c.3525C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589356 | 1193 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127071899T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071899T>C Locations: - p.Ile1193Thr (Ensembl:ENSMUST00000103220) - c.3578T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588475 | 1213 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000068.8:g.127071959A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127071959A>G Locations: - p.Lys1213Arg (Ensembl:ENSMUST00000103220) - c.3638A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592125 | 1235 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.127072117C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072117C>T Locations: - p.His1235Tyr (Ensembl:ENSMUST00000103220) - c.3703C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388582961 | 1254 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127072175T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072175T>C Locations: - p.Phe1254Ser (Ensembl:ENSMUST00000103220) - c.3761T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587234 | 1260 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127072193A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072193A>T Locations: - p.Glu1260Val (Ensembl:ENSMUST00000103220) - c.3779A>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588445 | 1266 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127072210T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072210T>A Locations: - p.Tyr1266Asn (Ensembl:ENSMUST00000103220) - c.3796T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592160 | 1285 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127072457T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072457T>A Locations: - p.Ser1285Thr (Ensembl:ENSMUST00000103220) - c.3853T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587528 | 1296 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000068.8:g.127072491C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072491C>T Locations: - p.Pro1296Leu (Ensembl:ENSMUST00000103220) - c.3887C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585580 | 1314 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127072546C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072546C>A Locations: - p.Asn1314Lys (Ensembl:ENSMUST00000103220) - c.3942C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588499 | 1329 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127072590A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127072590A>G Locations: - p.Asn1329Ser (Ensembl:ENSMUST00000103220) - c.3986A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591533 | 1346 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127073639G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127073639G>A Locations: - p.Val1346Met (Ensembl:ENSMUST00000103220) - c.4036G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587518 | 1393 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127074340G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074340G>C Locations: - p.Trp1393Cys (Ensembl:ENSMUST00000103220) - c.4179G>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs27434252 | 1415 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127074406T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074406T>A Locations: - p.Asp1415Glu (Ensembl:ENSMUST00000103220) - c.4245T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388583165 | 1424 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127074432T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074432T>A Locations: - p.Ile1424Asn (Ensembl:ENSMUST00000103220) - c.4271T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592213 | 1435 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127074465T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074465T>C Locations: - p.Leu1435Pro (Ensembl:ENSMUST00000103220) - c.4304T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392176983 | 1465 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.127074821C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074821C>G Locations: - p.Pro1465Ala (Ensembl:ENSMUST00000103220) - c.4393C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592216 | 1473 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127074846G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074846G>T Locations: - p.Arg1473Leu (Ensembl:ENSMUST00000103220) - c.4418G>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587258 | 1499 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.127074925T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074925T>G Locations: - p.Asp1499Glu (Ensembl:ENSMUST00000103220) - c.4497T>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388576413 | 1514 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127074970C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074970C>A Locations: - p.Phe1514Leu (Ensembl:ENSMUST00000103220) - c.4542C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388592266 | 1515 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127074971C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127074971C>G Locations: - p.His1515Asp (Ensembl:ENSMUST00000103220) - c.4543C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585557 | 1547 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.127075156C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075156C>A Locations: - p.Tyr1547Ter (Ensembl:ENSMUST00000103220) - c.4641C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392208963 | 1578 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127075247A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075247A>C Locations: - p.Thr1578Pro (Ensembl:ENSMUST00000103220) - c.4732A>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588480 | 1584 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000068.8:g.127075265A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075265A>G Locations: - p.Ile1584Val (Ensembl:ENSMUST00000103220) - c.4750A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591518 | 1585 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.127075268C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075268C>A Locations: - p.Gln1585Lys (Ensembl:ENSMUST00000103220) - c.4753C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392046746 | 1591 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.127075429C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075429C>G Locations: - p.His1591Gln (Ensembl:ENSMUST00000103220) - c.4773C>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388583131 | 1607 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.127075476G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127075476G>T Locations: - p.Ser1607Ile (Ensembl:ENSMUST00000103220) - c.4820G>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs27434242 | 1641 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000068.8:g.127076889A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127076889A>G Locations: - p.Ile1641Val (Ensembl:ENSMUST00000103220) - c.4921A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587553 | 1676 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127077882A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127077882A>G Locations: - p.Tyr1676Cys (Ensembl:ENSMUST00000103220) - c.5027A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589914 | 1713 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.127078383T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078383T>A Locations: - p.Phe1713Tyr (Ensembl:ENSMUST00000103220) - c.5138T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589358 | 1717 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078395T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078395T>C Locations: - p.Phe1717Ser (Ensembl:ENSMUST00000103220) - c.5150T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589358 | 1717 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078395T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078395T>A Locations: - p.Phe1717Tyr (Ensembl:ENSMUST00000103220) - c.5150T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589945 | 1758 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078518C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078518C>T Locations: - p.Thr1758Ile (Ensembl:ENSMUST00000103220) - c.5273C>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3391904837 | 1785 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078690T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078690T>A Locations: - p.Leu1785Gln (Ensembl:ENSMUST00000103220) - c.5354T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392173708 | 1788 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078699T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078699T>A Locations: - p.Leu1788Gln (Ensembl:ENSMUST00000103220) - c.5363T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392035043 | 1806 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078753A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078753A>C Locations: - p.Asp1806Ala (Ensembl:ENSMUST00000103220) - c.5417A>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392176968 | 1829 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127078822T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127078822T>A Locations: - p.Ile1829Asn (Ensembl:ENSMUST00000103220) - c.5486T>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388588491 | 1849 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127079438T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127079438T>C Locations: - p.Ile1849Thr (Ensembl:ENSMUST00000103220) - c.5546T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388585604 | 1861 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127079474G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127079474G>T Locations: - p.Arg1861Met (Ensembl:ENSMUST00000103220) - c.5582G>T (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587274 | 1979 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127080423G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127080423G>A Locations: - p.Val1979Met (Ensembl:ENSMUST00000103220) - c.5935G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388583139 | 1980 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127080427A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127080427A>G Locations: - p.Glu1980Gly (Ensembl:ENSMUST00000103220) - c.5939A>G (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591524 | 2025 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000068.8:g.127080561G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127080561G>A Locations: - p.Asp2025Asn (Ensembl:ENSMUST00000103220) - c.6073G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388591500 | 2036 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.127080672G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127080672G>A Locations: - p.Val2036Met (Ensembl:ENSMUST00000103220) - c.6106G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388583167 | 2041 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127080688T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127080688T>C Locations: - p.Leu2041Pro (Ensembl:ENSMUST00000103220) - c.6122T>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388576392 | 2096 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.127082007G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127082007G>A Locations: - p.Ala2096Thr (Ensembl:ENSMUST00000103220) - c.6286G>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388589898 | 2106 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.127082037C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127082037C>A Locations: - p.Leu2106Met (Ensembl:ENSMUST00000103220) - c.6316C>A (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3388587476 | 2127 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000068.8:g.127082100A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127082100A>C Locations: - p.Lys2127Gln (Ensembl:ENSMUST00000103220) - c.6379A>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392046768 | 2134 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.127082122A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.127082122A>C Locations: - p.Asp2134Ala (Ensembl:ENSMUST00000103220) - c.6401A>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: | |||||||
rs3392181477 | 2137 | *>S | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000068.8:g.127082131G>C Codon: TGA/TCA Consequence type: stop lost Cytogenetic band: 2q Genomic location: NC_000068.8:g.127082131G>C Locations: - p.Ter2137SerextTer2 (Ensembl:ENSMUST00000103220) - c.6410G>C (Ensembl:ENSMUST00000103220) Source type: large scale study Cross-references: |