Product Details

Primer Sequences
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Primer Chromosome Location
Chr.13: 20189213-20189438 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
6000985 c.279G>C p.M93I Chr.13: 20189303-20189303 on Build GRCh38
6000872 c.281A>T p.H94L Chr.13: 20189301-20189301 on Build GRCh38
292643 c.357G>A p.E119E Chr.13: 20189225-20189225 on Build GRCh38
5842260 c.208C>T p.P70S Chr.13: 20189374-20189374 on Build GRCh38
5842259 c.254C>T p.S85F Chr.13: 20189328-20189328 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs104894395 Chr.13: 20189352-20189352 on Build GRCh38
rs775828835 Chr.13: 20189284-20189284 on Build GRCh38
rs759905442 Chr.13: 20189378-20189378 on Build GRCh38
rs886037849 Chr.13: 20189389-20189389 on Build GRCh38
rs111033361 Chr.13: 20189355-20189355 on Build GRCh38
rs771053295 Chr.13: 20189289-20189289 on Build GRCh38
rs111033204 Chr.13: 20189282-20189283 on Build GRCh38
rs727504755 Chr.13: 20189363-20189363 on Build GRCh38
rs915521910 Chr.13: 20189274-20189274 on Build GRCh38
rs1009769315 Chr.13: 20189416-20189416 on Build GRCh38
rs145216882 Chr.13: 20189341-20189341 on Build GRCh38
rs370696868 Chr.13: 20189395-20189395 on Build GRCh38
rs397516872 Chr.13: 20189301-20189301 on Build GRCh38
rs80338944 Chr.13: 20189351-20189351 on Build GRCh38
rs749070779 Chr.13: 20189291-20189291 on Build GRCh38
rs750618125 Chr.13: 20189399-20189399 on Build GRCh38
rs727504309 Chr.13: 20189394-20189394 on Build GRCh38
rs121912968 Chr.13: 20189364-20189364 on Build GRCh38
rs778922005 Chr.13: 20189408-20189408 on Build GRCh38
rs80338943 Chr.13: 20189347-20189347 on Build GRCh38
rs529440698 Chr.13: 20189290-20189290 on Build GRCh38
rs104894404 Chr.13: 20189406-20189406 on Build GRCh38
rs199883710 Chr.13: 20189344-20189344 on Build GRCh38
rs988776939 Chr.13: 20189263-20189263 on Build GRCh38
rs28931593 Chr.13: 20189358-20189358 on Build GRCh38
rs766998544 Chr.13: 20189300-20189300 on Build GRCh38
rs111033218 Chr.13: 20189333-20189333 on Build GRCh38
rs104894397 Chr.13: 20189353-20189353 on Build GRCh38
rs375122728 Chr.13: 20189405-20189405 on Build GRCh38
rs956898982 Chr.13: 20189257-20189257 on Build GRCh38
rs754237172 Chr.13: 20189318-20189318 on Build GRCh38
rs111033297 Chr.13: 20189413-20189413 on Build GRCh38
rs727504302 Chr.13: 20189343-20189343 on Build GRCh38
rs786204491 Chr.13: 20189291-20189292 on Build GRCh38
rs149137695 Chr.13: 20189357-20189357 on Build GRCh38
rs111033253 Chr.13: 20189256-20189269 on Build GRCh38
rs104894402 Chr.13: 20189359-20189359 on Build GRCh38
rs201839979 Chr.13: 20189295-20189295 on Build GRCh38
rs886037625 Chr.13: 20189297-20189298 on Build GRCh38
rs104894409 Chr.13: 20189332-20189332 on Build GRCh38
rs2274083 Chr.13: 20189241-20189241 on Build GRCh38
rs894732036 Chr.13: 20189409-20189409 on Build GRCh38
rs397516871 Chr.13: 20189303-20189303 on Build GRCh38
rs1003660637 Chr.13: 20189251-20189251 on Build GRCh38
rs938857026 Chr.13: 20189404-20189404 on Build GRCh38
rs397516870 Chr.13: 20189379-20189379 on Build GRCh38
rs374572413 Chr.13: 20189256-20189256 on Build GRCh38
rs104894410 Chr.13: 20189407-20189407 on Build GRCh38
rs781534323 Chr.13: 20189336-20189336 on Build GRCh38
rs111033299 Chr.13: 20189299-20189299 on Build GRCh38
rs527914983 Chr.13: 20189382-20189382 on Build GRCh38
rs80338942 Chr.13: 20189415-20189415 on Build GRCh38
rs758452984 Chr.13: 20189276-20189276 on Build GRCh38
rs267603770 Chr.13: 20189270-20189270 on Build GRCh38
rs200023879 Chr.13: 20189374-20189374 on Build GRCh38
rs768756034 Chr.13: 20189294-20189294 on Build GRCh38
rs139362103 Chr.13: 20189324-20189324 on Build GRCh38
rs727503067 Chr.13: 20189315-20189315 on Build GRCh38
rs968029859 Chr.13: 20189285-20189285 on Build GRCh38
rs111033203 Chr.13: 20189388-20189388 on Build GRCh38
rs104894412 Chr.13: 20189420-20189420 on Build GRCh38
rs763572195 Chr.13: 20189387-20189387 on Build GRCh38
rs80338945 Chr.13: 20189313-20189313 on Build GRCh38
rs756484720 Chr.13: 20189247-20189248 on Build GRCh38
rs201855069 Chr.13: 20189242-20189242 on Build GRCh38
rs199976861 Chr.13: 20189255-20189255 on Build GRCh38
rs143343083 Chr.13: 20189284-20189284 on Build GRCh38
rs1057502788 Chr.13: 20189261-20189261 on Build GRCh38
rs397516869 Chr.13: 20189396-20189396 on Build GRCh38
rs754202141 Chr.13: 20189254-20189254 on Build GRCh38
rs797045596 Chr.13: 20189255-20189270 on Build GRCh38
rs779358271 Chr.13: 20189264-20189264 on Build GRCh38
rs104894403 Chr.13: 20189386-20189386 on Build GRCh38
rs730880338 Chr.13: 20189312-20189313 on Build GRCh38
rs80338946 Chr.13: 20189243-20189243 on Build GRCh38
rs765921870 Chr.13: 20189317-20189317 on Build GRCh38

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