Q68FD9 · K1549_MOUSE
- ProteinUPF0606 protein KIAA1549
- GeneKiaa1549
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1940 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs224649085 | 11 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000072.7:g.38230914G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38230914G>C Locations: - p.Leu11Val (Ensembl:ENSMUST00000169256) - c.31C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs1133497722 | 25 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000072.7:g.38230872G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38230872G>A Locations: - p.Arg25Cys (Ensembl:ENSMUST00000169256) - c.73C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs36784936 | 75 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000072.7:g.38173943G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173943G>A Locations: - p.Ala75Val (Ensembl:ENSMUST00000169256) - c.224C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs39570500 | 82 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.91) Somatic: No Accession: NC_000072.7:g.38173923T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173923T>A Locations: - p.Thr82Ser (Ensembl:ENSMUST00000169256) - c.244A>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37721807 | 98 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000072.7:g.38173874G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173874G>A Locations: - p.Pro98Leu (Ensembl:ENSMUST00000169256) - c.293C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs29922342 | 161 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38173686G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173686G>A Locations: - p.Arg161Trp (Ensembl:ENSMUST00000169256) - c.481C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs256724775 | 236 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000072.7:g.38173461G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173461G>A Locations: - p.Leu236Phe (Ensembl:ENSMUST00000169256) - c.706C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs219939419 | 279 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000072.7:g.38173331C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173331C>T Locations: - p.Gly279Asp (Ensembl:ENSMUST00000169256) - c.836G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806485 | 302 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38173263T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173263T>A Locations: - p.Ser302Cys (Ensembl:ENSMUST00000169256) - c.904A>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806485 | 302 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000072.7:g.38173263T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173263T>G Locations: - p.Ser302Arg (Ensembl:ENSMUST00000169256) - c.904A>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs250958852 | 349 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000072.7:g.38173122G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173122G>A Locations: - p.Pro349Ser (Ensembl:ENSMUST00000169256) - c.1045C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs248652763 | 360 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000072.7:g.38173089G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173089G>A Locations: - p.Pro360Ser (Ensembl:ENSMUST00000169256) - c.1078C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs224015130 | 362 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000072.7:g.38173083C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38173083C>T Locations: - p.Val362Ile (Ensembl:ENSMUST00000169256) - c.1084G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396243886 | 405 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000072.7:g.38172954C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172954C>G Locations: - p.Gly405Arg (Ensembl:ENSMUST00000169256) - c.1213G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396717396 | 405 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000072.7:g.38172953C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172953C>A Locations: - p.Gly405Val (Ensembl:ENSMUST00000169256) - c.1214G>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37422385 | 434 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38172865C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172865C>G Locations: - p.Glu434Asp (Ensembl:ENSMUST00000169256) - c.1302G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs213708910 | 448 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000072.7:g.38172824G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172824G>A Locations: - p.Pro448Leu (Ensembl:ENSMUST00000169256) - c.1343C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388812780 | 449 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38172820C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172820C>A Locations: - p.Leu449Phe (Ensembl:ENSMUST00000169256) - c.1347G>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388821275 | 459 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_000072.7:g.38172792G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172792G>A Locations: - p.Leu459Phe (Ensembl:ENSMUST00000169256) - c.1375C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs253280991 | 475 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38172744A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172744A>C Locations: - p.Phe475Val (Ensembl:ENSMUST00000169256) - c.1423T>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs240154370 | 477 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000072.7:g.38172738A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172738A>T Locations: - p.Phe477Ile (Ensembl:ENSMUST00000169256) - c.1429T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388812782 | 486 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.38172711T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172711T>A Locations: - p.Lys486Ter (Ensembl:ENSMUST00000169256) - c.1456A>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3544201169 | 494 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000072.7:g.38172687C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172687C>T Locations: - p.Glu494Lys (Ensembl:ENSMUST00000169256) - c.1480G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37158980 | 502 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38172662A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172662A>G Locations: - p.Ile502Thr (Ensembl:ENSMUST00000169256) - c.1505T>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs259385740 | 511 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000072.7:g.38172635C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172635C>A Locations: - p.Arg511Leu (Ensembl:ENSMUST00000169256) - c.1532G>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs228460020 | 528 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000072.7:g.38172584C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172584C>T Locations: - p.Ser528Asn (Ensembl:ENSMUST00000169256) - c.1583G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs38244430 | 552 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000072.7:g.38172513A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172513A>G Locations: - p.Ser552Pro (Ensembl:ENSMUST00000169256) - c.1654T>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs243494477 | 571 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38172455A>T Codon: CTT/CAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172455A>T Locations: - p.Leu571His (Ensembl:ENSMUST00000169256) - c.1712T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs38137632 | 572 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000072.7:g.38172453G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172453G>A Locations: - p.Leu572Phe (Ensembl:ENSMUST00000169256) - c.1714C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37097943 | 596 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000072.7:g.38172380T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172380T>C Locations: - p.Glu596Gly (Ensembl:ENSMUST00000169256) - c.1787A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388824447 | 634 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000072.7:g.38172267T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172267T>A Locations: - p.Met634Leu (Ensembl:ENSMUST00000169256) - c.1900A>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs264295160 | 647 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000072.7:g.38172227G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172227G>T Locations: - p.Ser647Tyr (Ensembl:ENSMUST00000169256) - c.1940C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37531214 | 657 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38172198T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172198T>C Locations: - p.Asn657Asp (Ensembl:ENSMUST00000169256) - c.1969A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396243912 | 665 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_000072.7:g.38172174G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172174G>C Locations: - p.Gln665Glu (Ensembl:ENSMUST00000169256) - c.1993C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388817868 | 668 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38172164A>T Codon: GTT/GAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172164A>T Locations: - p.Val668Asp (Ensembl:ENSMUST00000169256) - c.2003T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3395896995 | 676 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000072.7:g.38172141G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172141G>A Locations: - p.Pro676Ser (Ensembl:ENSMUST00000169256) - c.2026C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs248469517 | 679 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000072.7:g.38172132G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172132G>A Locations: - p.Pro679Ser (Ensembl:ENSMUST00000169256) - c.2035C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396494066 | 680 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.38172129G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172129G>A Locations: - p.Gln680Ter (Ensembl:ENSMUST00000169256) - c.2038C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806496 | 702 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000072.7:g.38172063G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172063G>A Locations: - p.Leu702Phe (Ensembl:ENSMUST00000169256) - c.2104C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388802260 | 709 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38172041G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172041G>C Locations: - p.Ser709Cys (Ensembl:ENSMUST00000169256) - c.2126C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388802260 | 709 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38172041G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172041G>T Locations: - p.Ser709Tyr (Ensembl:ENSMUST00000169256) - c.2126C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396624419 | 711 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000072.7:g.38172036C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172036C>G Locations: - p.Glu711Gln (Ensembl:ENSMUST00000169256) - c.2131G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388816536 | 717 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38172018T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38172018T>C Locations: - p.Arg717Gly (Ensembl:ENSMUST00000169256) - c.2149A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs37776805 | 784 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000072.7:g.38171817A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171817A>T Locations: - p.Leu784Ile (Ensembl:ENSMUST00000169256) - c.2350T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs30503972 | 797 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000072.7:g.38171778C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171778C>T Locations: - p.Asp797Asn (Ensembl:ENSMUST00000169256) - c.2389G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388816600 | 799 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38171771C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171771C>T Locations: - p.Ser799Asn (Ensembl:ENSMUST00000169256) - c.2396G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs39923321 | 816 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000072.7:g.38171720A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171720A>G Locations: - p.Val816Ala (Ensembl:ENSMUST00000169256) - c.2447T>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs38213440 | 823 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000072.7:g.38171699G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171699G>A Locations: - p.Ser823Leu (Ensembl:ENSMUST00000169256) - c.2468C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs230913286 | 856 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38171601A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171601A>G Locations: - p.Ser856Pro (Ensembl:ENSMUST00000169256) - c.2566T>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388816537 | 932 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38171373T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171373T>C Locations: - p.Lys932Glu (Ensembl:ENSMUST00000169256) - c.2794A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3395897035 | 934 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38171367G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38171367G>A Locations: - p.Pro934Ser (Ensembl:ENSMUST00000169256) - c.2800C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388822094 | 1015 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000072.7:g.38167558C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38167558C>G Locations: - p.Gly1015Arg (Ensembl:ENSMUST00000169256) - c.3043G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3412866251 | 1082 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38158431A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158431A>T Locations: - p.Ile1082Asn (Ensembl:ENSMUST00000169256) - c.3245T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396252620 | 1103 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38158369A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158369A>C Locations: - p.Phe1103Val (Ensembl:ENSMUST00000169256) - c.3307T>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806494 | 1112 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38158342G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158342G>T Locations: - p.Leu1112Met (Ensembl:ENSMUST00000169256) - c.3334C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388823125 | 1119 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38158319A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158319A>T Locations: - p.Asp1119Glu (Ensembl:ENSMUST00000169256) - c.3357T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388802326 | 1137 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38158267C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158267C>G Locations: - p.Val1137Leu (Ensembl:ENSMUST00000169256) - c.3409G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs39670688 | 1139 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000072.7:g.38158259C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38158259C>G Locations: - p.Gln1139His (Ensembl:ENSMUST00000169256) - c.3417G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388821350 | 1152 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000072.7:g.38155799A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38155799A>T Locations: - p.Ser1152Thr (Ensembl:ENSMUST00000169256) - c.3454T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806555 | 1170 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.38154670T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.38154670T>A Locations: - p.Lys1170Ter (Ensembl:ENSMUST00000169256) - c.3508A>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388817840 | 1179 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000072.7:g.38154643C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38154643C>T Locations: - p.Ala1179Thr (Ensembl:ENSMUST00000169256) - c.3535G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396252607 | 1190 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38154608G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38154608G>T Locations: - p.Ser1190Arg (Ensembl:ENSMUST00000169256) - c.3570C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388802248 | 1192 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38154604C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38154604C>T Locations: - p.Val1192Met (Ensembl:ENSMUST00000169256) - c.3574G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs36884046 | 1232 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38151203C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38151203C>A Locations: - p.Val1232Leu (Ensembl:ENSMUST00000169256) - c.3694G>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388823174 | 1258 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38151124G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38151124G>A Locations: - p.Ala1258Val (Ensembl:ENSMUST00000169256) - c.3773C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388822720 | 1264 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38151107G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38151107G>A Locations: - p.Arg1264Trp (Ensembl:ENSMUST00000169256) - c.3790C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs225624556 | 1286 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38145168T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38145168T>C Locations: - p.Asn1286Ser (Ensembl:ENSMUST00000169256) - c.3857A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs30599210 | 1370 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000072.7:g.38135071C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38135071C>T Locations: - p.Val1370Met (Ensembl:ENSMUST00000169256) - c.4108G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388809780 | 1388 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38135016T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38135016T>C Locations: - p.Lys1388Arg (Ensembl:ENSMUST00000169256) - c.4163A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388809780 | 1388 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38135016T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38135016T>G Locations: - p.Lys1388Thr (Ensembl:ENSMUST00000169256) - c.4163A>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs213647651 | 1390 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000072.7:g.38135011G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38135011G>A Locations: - p.Pro1390Ser (Ensembl:ENSMUST00000169256) - c.4168C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs1134288848 | 1410 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38132147G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38132147G>C Locations: - p.Ser1410Arg (Ensembl:ENSMUST00000169256) - c.4230C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs221517835 | 1418 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38132124G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38132124G>C Locations: - p.Ala1418Gly (Ensembl:ENSMUST00000169256) - c.4253C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs221517835 | 1418 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000072.7:g.38132124G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38132124G>A Locations: - p.Ala1418Val (Ensembl:ENSMUST00000169256) - c.4253C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388823156 | 1423 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38132109G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38132109G>A Locations: - p.Pro1423Leu (Ensembl:ENSMUST00000169256) - c.4268C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388821355 | 1425 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000072.7:g.38132104C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38132104C>G Locations: - p.Ala1425Pro (Ensembl:ENSMUST00000169256) - c.4273G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs864303501 | 1449 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000072.7:g.38126663T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38126663T>C Locations: - p.His1449Arg (Ensembl:ENSMUST00000169256) - c.4346A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388822097 | 1452 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38126654G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38126654G>A Locations: - p.Ala1452Val (Ensembl:ENSMUST00000169256) - c.4355C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs236783615 | 1488 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.38126546G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38126546G>A Locations: - p.Ala1488Val (Ensembl:ENSMUST00000169256) - c.4463C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388809818 | 1521 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38125452G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38125452G>A Locations: - p.Arg1521Cys (Ensembl:ENSMUST00000169256) - c.4561C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806529 | 1601 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000072.7:g.38124149G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38124149G>C Locations: - p.Ala1601Gly (Ensembl:ENSMUST00000169256) - c.4802C>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396623633 | 1632 | P>L | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.38124057_38124058insCCTCCGGGTGTGCACAACTCTGCCTACATCGGATGCCCGGTATGTAATACCAG Codon: CCG/CTGGTATTACATACCGGGCATCCGATGTAGGCAGAGTTGTGCACACCCGGAGGCCG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.38124057_38124058insCCTCCGGGTGTGCACAACTCTGCCTACATCGGATGCCCGGTATGTAATACCAG Locations: - p.Pro1632LeufsTer10 (Ensembl:ENSMUST00000169256) - c.4894_4895insTGGTATTACATACCGGGCATCCGATGTAGGCAGAGTTGTGCACACCCGGAGGC (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388815935 | 1633 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38119844A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38119844A>G Locations: - p.Ser1633Pro (Ensembl:ENSMUST00000169256) - c.4897T>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs50097922 | 1696 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000072.7:g.38119654G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38119654G>A Locations: - p.Ala1696Val (Ensembl:ENSMUST00000169256) - c.5087C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs48054323 | 1697 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000072.7:g.38119652T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38119652T>C Locations: - p.Met1697Val (Ensembl:ENSMUST00000169256) - c.5089A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3544142803 | 1699 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000072.7:g.38119645G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38119645G>A Locations: - p.Ala1699Val (Ensembl:ENSMUST00000169256) - c.5096C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388821325 | 1741 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000072.7:g.38116397T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38116397T>C Locations: - p.Glu1741Gly (Ensembl:ENSMUST00000169256) - c.5222A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs229266393 | 1772 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000072.7:g.38113875T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38113875T>G Locations: - p.Glu1772Asp (Ensembl:ENSMUST00000169256) - c.5316A>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388802329 | 1777 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000072.7:g.38113860C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38113860C>A Locations: - p.Gln1777His (Ensembl:ENSMUST00000169256) - c.5331G>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs48714774 | 1786 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000072.7:g.38113835C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38113835C>T Locations: - p.Ala1786Thr (Ensembl:ENSMUST00000169256) - c.5356G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388822123 | 1797 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38113802C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38113802C>T Locations: - p.Val1797Met (Ensembl:ENSMUST00000169256) - c.5389G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396405304 | 1809 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38107860A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38107860A>T Locations: - p.Ser1809Thr (Ensembl:ENSMUST00000169256) - c.5425T>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs241615270 | 1832 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000072.7:g.38107791C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38107791C>G Locations: - p.Ala1832Pro (Ensembl:ENSMUST00000169256) - c.5494G>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3396581614 | 1851 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000072.7:g.38107733G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38107733G>A Locations: - p.Ala1851Val (Ensembl:ENSMUST00000169256) - c.5552C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs260807456 | 1865 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.38105485T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105485T>C Locations: - p.Tyr1865Cys (Ensembl:ENSMUST00000169256) - c.5594A>G (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388806490 | 1868 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.38105476G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105476G>T Locations: - p.Ser1868Ter (Ensembl:ENSMUST00000169256) - c.5603C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388830754 | 1874 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000072.7:g.38105458G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105458G>T Locations: - p.Pro1874Gln (Ensembl:ENSMUST00000169256) - c.5621C>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388824435 | 1880 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38105441C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105441C>T Locations: - p.Glu1880Lys (Ensembl:ENSMUST00000169256) - c.5638G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388815937 | 1884 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38105429G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105429G>A Locations: - p.Pro1884Ser (Ensembl:ENSMUST00000169256) - c.5650C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs221546492 | 1889 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.38105414C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105414C>T Locations: - p.Ala1889Thr (Ensembl:ENSMUST00000169256) - c.5665G>A (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388823170 | 1902 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38105374G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105374G>A Locations: - p.Thr1902Ile (Ensembl:ENSMUST00000169256) - c.5705C>T (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: | |||||||
rs3388809773 | 1919 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.38105323T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.38105323T>G Locations: - p.Lys1919Thr (Ensembl:ENSMUST00000169256) - c.5756A>C (Ensembl:ENSMUST00000169256) Source type: large scale study Cross-references: |