Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 56214499-56214758 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
CHCHD7
Entrez Gene ID
79145
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 7
Gene Aliases
COX23
UniGene
Hs.436913
Gene Chromosome Location
Chr.8: 56211638-56218798 on Build GRCh38
Transcripts
NM_001011667.2 NM_001011668.2 NM_001011669.2 NM_001011670.2 NM_001011671.2 NM_001317858.1 NM_001317859.1 NM_024300.4 NR_133934.1 NR_133935.1 NR_133936.1 NR_133937.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1100669 c.54+2T>C p.? Chr.8: 56214669-56214669 on Build GRCh38
4520054 c.103G>T p.D35Y Chr.8: 56214641-56214641 on Build GRCh38
4520056 c.64G>T p.D22Y Chr.8: 56214641-56214641 on Build GRCh38
1100668 c.54G>A p.S18S Chr.8: 56214667-56214667 on Build GRCh38
7156261 c.90A>G p.T30T Chr.8: 56214628-56214628 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs758577696 Chr.8: 56214660-56214660 on Build GRCh38
rs753777004 Chr.8: 56214657-56214657 on Build GRCh38
rs1028053761 Chr.8: 56214531-56214531 on Build GRCh38
rs759082213 Chr.8: 56214703-56214703 on Build GRCh38
rs745944784 Chr.8: 56214554-56214554 on Build GRCh38
rs768823048 Chr.8: 56214667-56214667 on Build GRCh38
rs371224115 Chr.8: 56214542-56214542 on Build GRCh38
rs915561578 Chr.8: 56214674-56214674 on Build GRCh38
rs771438056 Chr.8: 56214697-56214697 on Build GRCh38
rs776913351 Chr.8: 56214583-56214583 on Build GRCh38
rs891861033 Chr.8: 56214720-56214720 on Build GRCh38
rs549819194 Chr.8: 56214696-56214696 on Build GRCh38
rs768887987 Chr.8: 56214575-56214575 on Build GRCh38
rs760566593 Chr.8: 56214716-56214716 on Build GRCh38
rs932569532 Chr.8: 56214627-56214627 on Build GRCh38
rs187612406 Chr.8: 56214728-56214728 on Build GRCh38
rs757859670 Chr.8: 56214610-56214611 on Build GRCh38
rs551676319 Chr.8: 56214596-56214596 on Build GRCh38
rs765750498 Chr.8: 56214575-56214576 on Build GRCh38
rs34934032 Chr.8: 56214568-56214568 on Build GRCh38
rs151218676 Chr.8: 56214590-56214590 on Build GRCh38
rs781475305 Chr.8: 56214673-56214673 on Build GRCh38
rs1053144581 Chr.8: 56214718-56214718 on Build GRCh38
rs747156920 Chr.8: 56214564-56214564 on Build GRCh38
rs748520022 Chr.8: 56214676-56214676 on Build GRCh38
rs777847792 Chr.8: 56214549-56214549 on Build GRCh38
rs139901249 Chr.8: 56214639-56214639 on Build GRCh38
rs775223366 Chr.8: 56214715-56214715 on Build GRCh38
rs770087819 Chr.8: 56214686-56214686 on Build GRCh38
rs371042795 Chr.8: 56214621-56214621 on Build GRCh38
rs140369694 Chr.8: 56214708-56214708 on Build GRCh38
rs772219094 Chr.8: 56214555-56214555 on Build GRCh38
rs145366604 Chr.8: 56214666-56214666 on Build GRCh38
rs763939317 Chr.8: 56214717-56214717 on Build GRCh38
rs368038432 Chr.8: 56214692-56214692 on Build GRCh38
rs767184686 Chr.8: 56214622-56214622 on Build GRCh38
rs753178213 Chr.8: 56214576-56214576 on Build GRCh38
rs777864071 Chr.8: 56214648-56214648 on Build GRCh38
rs773790911 Chr.8: 56214702-56214702 on Build GRCh38
rs753650508 Chr.8: 56214719-56214719 on Build GRCh38
rs985304961 Chr.8: 56214656-56214656 on Build GRCh38
rs770355654 Chr.8: 56214593-56214593 on Build GRCh38

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