Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 121446939-121447432 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
4529166 c.158G>T p.R53L Chr.6: 121447005-121447005 on Build GRCh38
1285163 c.281C>A p.A94D Chr.6: 121447128-121447128 on Build GRCh38
1253252 c.157C>G p.R53G Chr.6: 121447004-121447004 on Build GRCh38
4423687 c.510G>C p.L170F Chr.6: 121447357-121447357 on Build GRCh38
3620060 c.328G>A p.E110K Chr.6: 121447175-121447175 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs750243405 Chr.6: 121447330-121447330 on Build GRCh38
rs267606845 Chr.6: 121447073-121447073 on Build GRCh38
rs748292452 Chr.6: 121447197-121447197 on Build GRCh38
rs749848582 Chr.6: 121447375-121447375 on Build GRCh38
rs201088822 Chr.6: 121447258-121447258 on Build GRCh38
rs145279962 Chr.6: 121447174-121447174 on Build GRCh38
rs904683660 Chr.6: 121447044-121447044 on Build GRCh38
rs973444435 Chr.6: 121447315-121447315 on Build GRCh38
rs1057518872 Chr.6: 121447287-121447287 on Build GRCh38
rs752221637 Chr.6: 121447297-121447297 on Build GRCh38
rs767304985 Chr.6: 121447294-121447294 on Build GRCh38
rs377427187 Chr.6: 121447378-121447378 on Build GRCh38
rs755535373 Chr.6: 121447149-121447149 on Build GRCh38
rs575737793 Chr.6: 121447063-121447063 on Build GRCh38
rs756283641 Chr.6: 121447368-121447368 on Build GRCh38
rs769704488 Chr.6: 121447212-121447212 on Build GRCh38
rs780272382 Chr.6: 121446984-121446984 on Build GRCh38
rs768844689 Chr.6: 121447193-121447193 on Build GRCh38
rs374218530 Chr.6: 121447050-121447050 on Build GRCh38
rs747274742 Chr.6: 121447177-121447177 on Build GRCh38
rs528368757 Chr.6: 121447357-121447357 on Build GRCh38
rs79357545 Chr.6: 121447316-121447316 on Build GRCh38
rs776662901 Chr.6: 121447018-121447018 on Build GRCh38
rs766836780 Chr.6: 121447111-121447111 on Build GRCh38
rs758150241 Chr.6: 121447354-121447354 on Build GRCh38
rs72548741 Chr.6: 121447303-121447303 on Build GRCh38
rs1057518960 Chr.6: 121447333-121447333 on Build GRCh38
rs377077470 Chr.6: 121447355-121447355 on Build GRCh38
rs763503078 Chr.6: 121447304-121447304 on Build GRCh38
rs542057909 Chr.6: 121447402-121447402 on Build GRCh38
rs752276109 Chr.6: 121447126-121447126 on Build GRCh38
rs369139298 Chr.6: 121447348-121447348 on Build GRCh38
rs559636710 Chr.6: 121447313-121447313 on Build GRCh38
rs28931601 Chr.6: 121447133-121447133 on Build GRCh38
rs962041031 Chr.6: 121447290-121447290 on Build GRCh38
rs770568811 Chr.6: 121446979-121446979 on Build GRCh38
rs370071579 Chr.6: 121447374-121447374 on Build GRCh38
rs772468708 Chr.6: 121447362-121447362 on Build GRCh38
rs757137581 Chr.6: 121447166-121447166 on Build GRCh38
rs577579283 Chr.6: 121447223-121447223 on Build GRCh38
rs2228961 Chr.6: 121447349-121447349 on Build GRCh38
rs886061009 Chr.6: 121447117-121447117 on Build GRCh38
rs757158884 Chr.6: 121447319-121447319 on Build GRCh38
rs768793389 Chr.6: 121447015-121447015 on Build GRCh38
rs749135596 Chr.6: 121446976-121446976 on Build GRCh38
rs28931600 Chr.6: 121447274-121447274 on Build GRCh38
rs759231549 Chr.6: 121447123-121447123 on Build GRCh38
rs139688042 Chr.6: 121447036-121447036 on Build GRCh38
rs201994305 Chr.6: 121447279-121447279 on Build GRCh38
rs564147427 Chr.6: 121447194-121447194 on Build GRCh38
rs267606844 Chr.6: 121447074-121447074 on Build GRCh38
rs771460977 Chr.6: 121447252-121447252 on Build GRCh38
rs72548740 Chr.6: 121447114-121447114 on Build GRCh38
rs878853696 Chr.6: 121447373-121447373 on Build GRCh38
rs544249730 Chr.6: 121447156-121447156 on Build GRCh38
rs770356522 Chr.6: 121447042-121447042 on Build GRCh38
rs774572196 Chr.6: 121447230-121447230 on Build GRCh38
rs746235641 Chr.6: 121447399-121447399 on Build GRCh38
rs765067981 Chr.6: 121447324-121447324 on Build GRCh38
rs775274022 Chr.6: 121447410-121447410 on Build GRCh38
rs747221644 Chr.6: 121446994-121446994 on Build GRCh38
rs777767461 Chr.6: 121447152-121447152 on Build GRCh38
rs794729675 Chr.6: 121446978-121446978 on Build GRCh38
rs555672534 Chr.6: 121446964-121446964 on Build GRCh38

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