Product Details

Primer Sequences
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Primer Chromosome Location
Chr.13: 20189352-20189861 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
GJB2
Entrez Gene ID
2706
Gene Name
gap junction protein beta 2
Gene Aliases
CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
UniGene
Hs.524894
Gene Chromosome Location
Chr.13: 20187463-20192975 on Build GRCh38
Transcripts
NM_004004.5 XM_011535049.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1289881 c.94C>T p.R32C Chr.13: 20189488-20189488 on Build GRCh38
7115026 c.74T>C p.L25P Chr.13: 20189508-20189508 on Build GRCh38
4575862 c.56G>C p.S19T Chr.13: 20189526-20189526 on Build GRCh38
5842260 c.208C>T p.P70S Chr.13: 20189374-20189374 on Build GRCh38
2265395 c.110T>C p.V37A Chr.13: 20189472-20189472 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs778485789 Chr.13: 20189789-20189789 on Build GRCh38
rs371086981 Chr.13: 20189580-20189580 on Build GRCh38
rs866127155 Chr.13: 20189460-20189460 on Build GRCh38
rs72561721 Chr.13: 20189635-20189635 on Build GRCh38
rs891460769 Chr.13: 20189677-20189677 on Build GRCh38
rs72561725 Chr.13: 20189596-20189596 on Build GRCh38
rs777563616 Chr.13: 20189627-20189627 on Build GRCh38
rs397516873 Chr.13: 20189514-20189551 on Build GRCh38
rs759905442 Chr.13: 20189378-20189378 on Build GRCh38
rs1009769315 Chr.13: 20189416-20189416 on Build GRCh38
rs750618125 Chr.13: 20189399-20189399 on Build GRCh38
rs551625098 Chr.13: 20189604-20189604 on Build GRCh38
rs28931594 Chr.13: 20189434-20189434 on Build GRCh38
rs769486081 Chr.13: 20189510-20189510 on Build GRCh38
rs1042842613 Chr.13: 20189761-20189761 on Build GRCh38
rs398123814 Chr.13: 20189546-20189547 on Build GRCh38
rs104894404 Chr.13: 20189406-20189406 on Build GRCh38
rs371024165 Chr.13: 20189488-20189488 on Build GRCh38
rs111033217 Chr.13: 20189538-20189538 on Build GRCh38
rs398123815 Chr.13: 20189475-20189476 on Build GRCh38
rs104894408 Chr.13: 20189548-20189548 on Build GRCh38
rs104894396 Chr.13: 20189511-20189511 on Build GRCh38
rs1014302561 Chr.13: 20189806-20189806 on Build GRCh38
rs1021560633 Chr.13: 20189591-20189591 on Build GRCh38
rs111033297 Chr.13: 20189413-20189413 on Build GRCh38
rs555604000 Chr.13: 20189764-20189764 on Build GRCh38
rs992587820 Chr.13: 20189607-20189607 on Build GRCh38
rs575475719 Chr.13: 20189775-20189775 on Build GRCh38
rs540212215 Chr.13: 20189824-20189824 on Build GRCh38
rs757226502 Chr.13: 20189567-20189567 on Build GRCh38
rs145040294 Chr.13: 20189805-20189805 on Build GRCh38
rs535635403 Chr.13: 20189456-20189456 on Build GRCh38
rs764693395 Chr.13: 20189464-20189464 on Build GRCh38
rs558035470 Chr.13: 20189790-20189790 on Build GRCh38
rs397516870 Chr.13: 20189379-20189379 on Build GRCh38
rs72561723 Chr.13: 20189448-20189448 on Build GRCh38
rs191461105 Chr.13: 20189638-20189638 on Build GRCh38
rs759745271 Chr.13: 20189597-20189597 on Build GRCh38
rs80338942 Chr.13: 20189415-20189415 on Build GRCh38
rs200023879 Chr.13: 20189374-20189374 on Build GRCh38
rs201848820 Chr.13: 20189504-20189504 on Build GRCh38
rs766340495 Chr.13: 20189429-20189430 on Build GRCh38
rs80338939 Chr.13: 20189547-20189547 on Build GRCh38
rs888444898 Chr.13: 20189423-20189423 on Build GRCh38
rs575453513 Chr.13: 20189484-20189484 on Build GRCh38
rs111033203 Chr.13: 20189388-20189388 on Build GRCh38
rs1057517976 Chr.13: 20189436-20189436 on Build GRCh38
rs104894412 Chr.13: 20189420-20189420 on Build GRCh38
rs776267945 Chr.13: 20189454-20189454 on Build GRCh38
rs533231493 Chr.13: 20189558-20189558 on Build GRCh38
rs72474224 Chr.13: 20189473-20189473 on Build GRCh38
rs138547875 Chr.13: 20189474-20189474 on Build GRCh38
rs763572195 Chr.13: 20189387-20189387 on Build GRCh38
rs1057517491 Chr.13: 20189448-20189448 on Build GRCh38
rs886037624 Chr.13: 20189520-20189531 on Build GRCh38
rs73156818 Chr.13: 20189783-20189783 on Build GRCh38
rs35887622 Chr.13: 20189481-20189481 on Build GRCh38
rs1022713898 Chr.13: 20189822-20189822 on Build GRCh38
rs141774369 Chr.13: 20189472-20189472 on Build GRCh38
rs762466001 Chr.13: 20189536-20189536 on Build GRCh38
rs111033401 Chr.13: 20189573-20189573 on Build GRCh38
rs753943758 Chr.13: 20189549-20189549 on Build GRCh38
rs111033296 Chr.13: 20189463-20189463 on Build GRCh38
rs1052830762 Chr.13: 20189667-20189667 on Build GRCh38
rs886037849 Chr.13: 20189389-20189389 on Build GRCh38
rs768338285 Chr.13: 20189582-20189582 on Build GRCh38
rs367567291 Chr.13: 20189595-20189595 on Build GRCh38
rs137932057 Chr.13: 20189561-20189561 on Build GRCh38
rs1015554564 Chr.13: 20189837-20189837 on Build GRCh38
rs80338941 Chr.13: 20189526-20189526 on Build GRCh38
rs529500747 Chr.13: 20189559-20189559 on Build GRCh38
rs370696868 Chr.13: 20189395-20189395 on Build GRCh38
rs778602324 Chr.13: 20189621-20189621 on Build GRCh38
rs891411456 Chr.13: 20189797-20189797 on Build GRCh38
rs727504309 Chr.13: 20189394-20189394 on Build GRCh38
rs756910036 Chr.13: 20189742-20189742 on Build GRCh38
rs879253741 Chr.13: 20189516-20189516 on Build GRCh38
rs564084861 Chr.13: 20189482-20189482 on Build GRCh38
rs778922005 Chr.13: 20189408-20189408 on Build GRCh38
rs374625633 Chr.13: 20189494-20189494 on Build GRCh38
rs781085903 Chr.13: 20189568-20189568 on Build GRCh38
rs2274084 Chr.13: 20189503-20189503 on Build GRCh38
rs9578260 Chr.13: 20189615-20189615 on Build GRCh38
rs1057517519 Chr.13: 20189523-20189523 on Build GRCh38
rs1801002 Chr.13: 20189547-20189547 on Build GRCh38
rs148136545 Chr.13: 20189587-20189587 on Build GRCh38
rs111033451 Chr.13: 20189563-20189563 on Build GRCh38
rs104894413 Chr.13: 20189451-20189451 on Build GRCh38
rs751509573 Chr.13: 20189478-20189483 on Build GRCh38
rs375122728 Chr.13: 20189405-20189405 on Build GRCh38
rs104894407 Chr.13: 20189450-20189450 on Build GRCh38
rs398123813 Chr.13: 20189588-20189588 on Build GRCh38
rs587783645 Chr.13: 20189424-20189424 on Build GRCh38
rs774642294 Chr.13: 20189584-20189584 on Build GRCh38
rs756467247 Chr.13: 20189478-20189478 on Build GRCh38
rs141962118 Chr.13: 20189609-20189609 on Build GRCh38
rs894732036 Chr.13: 20189409-20189409 on Build GRCh38
rs111033222 Chr.13: 20189571-20189571 on Build GRCh38
rs587783644 Chr.13: 20189475-20189475 on Build GRCh38
rs752236945 Chr.13: 20189592-20189592 on Build GRCh38
rs938857026 Chr.13: 20189404-20189404 on Build GRCh38
rs377390650 Chr.13: 20189620-20189620 on Build GRCh38
rs760844934 Chr.13: 20189589-20189589 on Build GRCh38
rs895475238 Chr.13: 20189791-20189791 on Build GRCh38
rs104894410 Chr.13: 20189407-20189407 on Build GRCh38
rs111033190 Chr.13: 20189487-20189487 on Build GRCh38
rs527914983 Chr.13: 20189382-20189382 on Build GRCh38
rs749693224 Chr.13: 20189522-20189522 on Build GRCh38
rs72561724 Chr.13: 20189683-20189683 on Build GRCh38
rs903999405 Chr.13: 20189765-20189765 on Build GRCh38
rs370164829 Chr.13: 20189441-20189441 on Build GRCh38
rs111033293 Chr.13: 20189581-20189581 on Build GRCh38
rs28929485 Chr.13: 20189532-20189532 on Build GRCh38
rs561870637 Chr.13: 20189462-20189462 on Build GRCh38
rs755661240 Chr.13: 20189614-20189614 on Build GRCh38
rs938342119 Chr.13: 20189648-20189648 on Build GRCh38
rs397516869 Chr.13: 20189396-20189396 on Build GRCh38
rs768130937 Chr.13: 20189545-20189545 on Build GRCh38
rs104894403 Chr.13: 20189386-20189386 on Build GRCh38
rs201895089 Chr.13: 20189605-20189605 on Build GRCh38
rs777528049 Chr.13: 20189447-20189447 on Build GRCh38
rs1037024661 Chr.13: 20189637-20189637 on Build GRCh38
rs372197957 Chr.13: 20189610-20189610 on Build GRCh38

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