Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 56216298-56216571 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
7361100 c.136G>T p.D46Y Chr.8: 56216439-56216439 on Build GRCh38
3900776 c.147T>C p.L49L Chr.8: 56216445-56216445 on Build GRCh38
3432475 c.195A>G p.P65P Chr.8: 56216493-56216493 on Build GRCh38
3951740 c.190G>T p.V64F Chr.8: 56216488-56216488 on Build GRCh38
1673922 c.205T>C p.*69R Chr.8: 56216503-56216503 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs866530233 Chr.8: 56216420-56216420 on Build GRCh38
rs780867120 Chr.8: 56216517-56216517 on Build GRCh38
rs751661057 Chr.8: 56216374-56216374 on Build GRCh38
rs765210448 Chr.8: 56216352-56216352 on Build GRCh38
rs749617877 Chr.8: 56216498-56216498 on Build GRCh38
rs777278681 Chr.8: 56216361-56216362 on Build GRCh38
rs371272586 Chr.8: 56216399-56216399 on Build GRCh38
rs748321802 Chr.8: 56216387-56216387 on Build GRCh38
rs763812651 Chr.8: 56216437-56216437 on Build GRCh38
rs757187089 Chr.8: 56216343-56216343 on Build GRCh38
rs773056509 Chr.8: 56216538-56216538 on Build GRCh38
rs910784000 Chr.8: 56216330-56216330 on Build GRCh38
rs757581686 Chr.8: 56216502-56216502 on Build GRCh38
rs992776302 Chr.8: 56216501-56216501 on Build GRCh38
rs777965569 Chr.8: 56216486-56216486 on Build GRCh38
rs772424235 Chr.8: 56216510-56216510 on Build GRCh38
rs779307983 Chr.8: 56216504-56216504 on Build GRCh38
rs768493121 Chr.8: 56216522-56216522 on Build GRCh38
rs552741696 Chr.8: 56216393-56216393 on Build GRCh38
rs199837228 Chr.8: 56216447-56216447 on Build GRCh38
rs761529561 Chr.8: 56216537-56216537 on Build GRCh38
rs756378593 Chr.8: 56216484-56216484 on Build GRCh38
rs927951709 Chr.8: 56216448-56216448 on Build GRCh38
rs375072891 Chr.8: 56216526-56216526 on Build GRCh38
rs751128128 Chr.8: 56216362-56216365 on Build GRCh38
rs760440093 Chr.8: 56216424-56216424 on Build GRCh38
rs191453168 Chr.8: 56216506-56216506 on Build GRCh38
rs755021014 Chr.8: 56216377-56216377 on Build GRCh38
rs925708806 Chr.8: 56216449-56216449 on Build GRCh38
rs185271810 Chr.8: 56216382-56216382 on Build GRCh38
rs755036469 Chr.8: 56216472-56216472 on Build GRCh38
rs1014622640 Chr.8: 56216534-56216534 on Build GRCh38
rs774852478 Chr.8: 56216413-56216413 on Build GRCh38
rs147658323 Chr.8: 56216439-56216439 on Build GRCh38
rs375504493 Chr.8: 56216421-56216421 on Build GRCh38
rs142643904 Chr.8: 56216520-56216520 on Build GRCh38
rs745381957 Chr.8: 56216418-56216418 on Build GRCh38
rs762990333 Chr.8: 56216542-56216542 on Build GRCh38
rs765093384 Chr.8: 56216459-56216459 on Build GRCh38
rs201403200 Chr.8: 56216423-56216423 on Build GRCh38
rs779755401 Chr.8: 56216518-56216518 on Build GRCh38
rs752743740 Chr.8: 56216481-56216481 on Build GRCh38
rs749638680 Chr.8: 56216408-56216408 on Build GRCh38
rs756903305 Chr.8: 56216451-56216451 on Build GRCh38
rs375590198 Chr.8: 56216365-56216365 on Build GRCh38
rs141446192 Chr.8: 56216473-56216473 on Build GRCh38
rs750320264 Chr.8: 56216470-56216470 on Build GRCh38
rs771408524 Chr.8: 56216412-56216412 on Build GRCh38

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