Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 52469141-52469687 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
EFHC1
Entrez Gene ID
114327
Gene Name
EF-hand domain containing 1
Gene Aliases
EJM1, dJ304B14.2
UniGene
Hs.403171
Gene Chromosome Location
Chr.6: 52420196-52495785 on Build GRCh38
Transcripts
NM_001172420.1 NM_018100.3 NR_033327.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3628508 c.1261C>T p.R421C Chr.6: 52469456-52469456 on Build GRCh38
6196657 c.1152T>C p.Y384Y Chr.6: 52469347-52469347 on Build GRCh38
4910850 c.1239G>A p.L413L Chr.6: 52469434-52469434 on Build GRCh38
1445166 c.1214_1215insA p.D408fs*4 Chr.6: 52469409-52469410 on Build GRCh38
3355096 c.1163G>A p.G388E Chr.6: 52469358-52469358 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1032577317 Chr.6: 52469474-52469474 on Build GRCh38
rs1001817140 Chr.6: 52469575-52469575 on Build GRCh38
rs780194296 Chr.6: 52469176-52469176 on Build GRCh38
rs774406545 Chr.6: 52469288-52469288 on Build GRCh38
rs773810917 Chr.6: 52469418-52469418 on Build GRCh38
rs144389178 Chr.6: 52469456-52469456 on Build GRCh38
rs574842330 Chr.6: 52469207-52469207 on Build GRCh38
rs748549661 Chr.6: 52469502-52469502 on Build GRCh38
rs753605289 Chr.6: 52469446-52469446 on Build GRCh38
rs779012527 Chr.6: 52469380-52469380 on Build GRCh38
rs767223757 Chr.6: 52469347-52469347 on Build GRCh38
rs1036487992 Chr.6: 52469371-52469371 on Build GRCh38
rs773777120 Chr.6: 52469515-52469515 on Build GRCh38
rs772314808 Chr.6: 52469313-52469313 on Build GRCh38
rs368169801 Chr.6: 52469320-52469320 on Build GRCh38
rs760238186 Chr.6: 52469437-52469437 on Build GRCh38
rs115913738 Chr.6: 52469350-52469350 on Build GRCh38
rs976449396 Chr.6: 52469536-52469536 on Build GRCh38
rs139399036 Chr.6: 52469264-52469264 on Build GRCh38
rs371862270 Chr.6: 52469477-52469477 on Build GRCh38
rs754483740 Chr.6: 52469409-52469410 on Build GRCh38
rs746126262 Chr.6: 52469302-52469302 on Build GRCh38
rs752449166 Chr.6: 52469426-52469426 on Build GRCh38
rs914037144 Chr.6: 52469526-52469526 on Build GRCh38
rs745982377 Chr.6: 52469382-52469382 on Build GRCh38
rs747324443 Chr.6: 52469491-52469491 on Build GRCh38
rs759677798 Chr.6: 52469583-52469583 on Build GRCh38
rs932580766 Chr.6: 52469327-52469327 on Build GRCh38
rs116134831 Chr.6: 52469419-52469419 on Build GRCh38
rs777529248 Chr.6: 52469351-52469351 on Build GRCh38
rs577320810 Chr.6: 52469280-52469280 on Build GRCh38
rs796052418 Chr.6: 52469465-52469465 on Build GRCh38
rs747142996 Chr.6: 52469396-52469396 on Build GRCh38
rs566874147 Chr.6: 52469339-52469339 on Build GRCh38
rs886061630 Chr.6: 52469392-52469392 on Build GRCh38
rs939883986 Chr.6: 52469637-52469637 on Build GRCh38
rs753549012 Chr.6: 52469377-52469377 on Build GRCh38
rs150837092 Chr.6: 52469168-52469168 on Build GRCh38
rs796052417 Chr.6: 52469367-52469367 on Build GRCh38
rs183278510 Chr.6: 52469277-52469277 on Build GRCh38
rs376515287 Chr.6: 52469488-52469488 on Build GRCh38
rs752254610 Chr.6: 52469349-52469349 on Build GRCh38
rs769124873 Chr.6: 52469397-52469397 on Build GRCh38
rs747718409 Chr.6: 52469305-52469305 on Build GRCh38
rs943738841 Chr.6: 52469245-52469245 on Build GRCh38
rs201946033 Chr.6: 52469389-52469389 on Build GRCh38
rs772003514 Chr.6: 52469388-52469388 on Build GRCh38
rs529767823 Chr.6: 52469469-52469469 on Build GRCh38
rs750259384 Chr.6: 52469460-52469460 on Build GRCh38
rs771184357 Chr.6: 52469476-52469476 on Build GRCh38
rs191128901 Chr.6: 52469613-52469613 on Build GRCh38
rs62407897 Chr.6: 52469573-52469573 on Build GRCh38
rs149649609 Chr.6: 52469626-52469626 on Build GRCh38
rs976445182 Chr.6: 52469341-52469341 on Build GRCh38
rs140161008 Chr.6: 52469535-52469536 on Build GRCh38
rs762451714 Chr.6: 52469409-52469409 on Build GRCh38
rs1045766121 Chr.6: 52469475-52469475 on Build GRCh38
rs768968811 Chr.6: 52469500-52469500 on Build GRCh38
rs777130566 Chr.6: 52469405-52469405 on Build GRCh38
rs777659552 Chr.6: 52469346-52469346 on Build GRCh38
rs762398679 Chr.6: 52469335-52469335 on Build GRCh38
rs368775877 Chr.6: 52469482-52469482 on Build GRCh38
rs1055018434 Chr.6: 52469618-52469618 on Build GRCh38
rs546262142 Chr.6: 52469342-52469342 on Build GRCh38
rs761130480 Chr.6: 52469321-52469321 on Build GRCh38
rs913649433 Chr.6: 52469230-52469230 on Build GRCh38
rs769926323 Chr.6: 52469372-52469372 on Build GRCh38
rs764297951 Chr.6: 52469323-52469323 on Build GRCh38
rs766874585 Chr.6: 52469420-52469420 on Build GRCh38
rs753835460 Chr.6: 52469363-52469363 on Build GRCh38
rs778852957 Chr.6: 52469457-52469457 on Build GRCh38
rs770406158 Chr.6: 52469417-52469417 on Build GRCh38
rs560939768 Chr.6: 52469439-52469439 on Build GRCh38
rs186224506 Chr.6: 52469510-52469510 on Build GRCh38
rs920944509 Chr.6: 52469541-52469541 on Build GRCh38
rs777292013 Chr.6: 52469329-52469329 on Build GRCh38
rs763353565 Chr.6: 52469520-52469520 on Build GRCh38

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