Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 121447786-121448033 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
GJA1
Entrez Gene ID
2697
Gene Name
gap junction protein alpha 1
Gene Aliases
AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA
UniGene
Hs.700699
Gene Chromosome Location
Chr.6: 121435577-121449744 on Build GRCh38
Transcripts
NM_000165.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1440193 c.969G>A p.A323A Chr.6: 121447816-121447816 on Build GRCh38
450422 c.950A>G p.Q317R Chr.6: 121447797-121447797 on Build GRCh38
6104743 c.1106G>A p.S369N Chr.6: 121447953-121447953 on Build GRCh38
6104744 c.942T>G p.S314R Chr.6: 121447789-121447789 on Build GRCh38
4514926 c.990C>T p.S330S Chr.6: 121447837-121447837 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs781202620 Chr.6: 121448001-121448001 on Build GRCh38
rs764494850 Chr.6: 121447880-121447880 on Build GRCh38
rs755674091 Chr.6: 121447929-121447929 on Build GRCh38
rs780949973 Chr.6: 121447926-121447926 on Build GRCh38
rs760700579 Chr.6: 121447959-121447959 on Build GRCh38
rs2227885 Chr.6: 121447932-121447932 on Build GRCh38
rs751588212 Chr.6: 121447922-121447922 on Build GRCh38
rs749986251 Chr.6: 121447910-121447910 on Build GRCh38
rs762256080 Chr.6: 121447976-121447976 on Build GRCh38
rs104893965 Chr.6: 121447974-121447974 on Build GRCh38
rs776458200 Chr.6: 121447840-121447840 on Build GRCh38
rs772176824 Chr.6: 121447956-121447956 on Build GRCh38
rs17852395 Chr.6: 121447879-121447879 on Build GRCh38
rs372862876 Chr.6: 121447945-121447945 on Build GRCh38
rs754987500 Chr.6: 121447923-121447923 on Build GRCh38
rs751144223 Chr.6: 121447994-121447994 on Build GRCh38
rs762665963 Chr.6: 121447984-121447984 on Build GRCh38
rs745596575 Chr.6: 121447888-121447889 on Build GRCh38
rs764950268 Chr.6: 121447905-121447905 on Build GRCh38
rs994770541 Chr.6: 121447955-121447955 on Build GRCh38
rs776041829 Chr.6: 121447878-121447878 on Build GRCh38
rs771214838 Chr.6: 121447845-121447845 on Build GRCh38
rs533432394 Chr.6: 121447907-121447907 on Build GRCh38
rs766036775 Chr.6: 121447987-121447987 on Build GRCh38
rs764435531 Chr.6: 121447816-121447816 on Build GRCh38
rs774369402 Chr.6: 121447861-121447861 on Build GRCh38
rs775522742 Chr.6: 121447957-121447957 on Build GRCh38
rs747847500 Chr.6: 121447843-121447843 on Build GRCh38
rs772121642 Chr.6: 121447862-121447862 on Build GRCh38
rs746081201 Chr.6: 121447948-121447948 on Build GRCh38
rs397824185 Chr.6: 121447999-121448000 on Build GRCh38
rs769417675 Chr.6: 121447940-121447940 on Build GRCh38
rs66916792 Chr.6: 121447838-121447838 on Build GRCh38
rs573095718 Chr.6: 121447999-121447999 on Build GRCh38
rs184583316 Chr.6: 121447886-121447886 on Build GRCh38
rs1042752774 Chr.6: 121447832-121447832 on Build GRCh38
rs758040381 Chr.6: 121447918-121447918 on Build GRCh38
rs553879521 Chr.6: 121447979-121447979 on Build GRCh38
rs757918014 Chr.6: 121447829-121447829 on Build GRCh38
rs145215218 Chr.6: 121447975-121447975 on Build GRCh38
rs756523929 Chr.6: 121447815-121447815 on Build GRCh38
rs778383309 Chr.6: 121447828-121447828 on Build GRCh38
rs753470523 Chr.6: 121447818-121447818 on Build GRCh38
rs147277470 Chr.6: 121447897-121447897 on Build GRCh38
rs779708355 Chr.6: 121447919-121447919 on Build GRCh38
rs765507238 Chr.6: 121447977-121447977 on Build GRCh38
rs950278635 Chr.6: 121447893-121447893 on Build GRCh38
rs756914391 Chr.6: 121447824-121447824 on Build GRCh38
rs780154529 Chr.6: 121447836-121447836 on Build GRCh38

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