Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 60781075-60781304 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
CHD7
Entrez Gene ID
55636
Gene Name
chromodomain helicase DNA binding protein 7
Gene Aliases
CRG, HH5, IS3, KAL5
UniGene
Hs.20395
Gene Chromosome Location
Chr.8: 60678744-60868028 on Build GRCh38
Transcripts
NM_001316690.1 NM_017780.3 XM_011517553.2 XM_011517554.2 XM_011517555.2 XM_011517560.2 XM_017013612.1 XM_017013613.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4163030 c.1918G>A p.E640K Chr.8: 60781252-60781252 on Build GRCh38
1457696 c.1947delA p.D652fs*59 Chr.8: 60781281-60781281 on Build GRCh38
41606 c.1668_2613dup p.556_871dup Chr.8: 60781000-60816501 on Build GRCh38
454721 c.1873G>C p.D625H Chr.8: 60781207-60781207 on Build GRCh38
4913354 c.1878C>A p.N626K Chr.8: 60781212-60781212 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs754640263 Chr.8: 60781224-60781224 on Build GRCh38
rs781210512 Chr.8: 60781228-60781229 on Build GRCh38
rs745960818 Chr.8: 60781110-60781110 on Build GRCh38
rs373032059 Chr.8: 60781142-60781142 on Build GRCh38
rs958865612 Chr.8: 60781114-60781114 on Build GRCh38
rs534225918 Chr.8: 60781147-60781147 on Build GRCh38
rs865818198 Chr.8: 60781213-60781213 on Build GRCh38
rs780759134 Chr.8: 60781225-60781225 on Build GRCh38
rs762168448 Chr.8: 60781153-60781153 on Build GRCh38
rs941844139 Chr.8: 60781266-60781266 on Build GRCh38
rs749214938 Chr.8: 60781254-60781254 on Build GRCh38
rs752468864 Chr.8: 60781238-60781238 on Build GRCh38
rs201456469 Chr.8: 60781185-60781185 on Build GRCh38
rs772252115 Chr.8: 60781120-60781120 on Build GRCh38
rs772341596 Chr.8: 60781271-60781271 on Build GRCh38
rs529321177 Chr.8: 60781241-60781241 on Build GRCh38
rs375905260 Chr.8: 60781201-60781201 on Build GRCh38
rs775890348 Chr.8: 60781132-60781132 on Build GRCh38
rs923306494 Chr.8: 60781242-60781242 on Build GRCh38
rs953329305 Chr.8: 60781207-60781207 on Build GRCh38
rs765693773 Chr.8: 60781160-60781160 on Build GRCh38
rs757119372 Chr.8: 60781123-60781128 on Build GRCh38
rs751273179 Chr.8: 60781215-60781215 on Build GRCh38
rs944109090 Chr.8: 60781281-60781281 on Build GRCh38
rs760971730 Chr.8: 60781135-60781135 on Build GRCh38
rs568525349 Chr.8: 60781103-60781103 on Build GRCh38
rs765870281 Chr.8: 60781204-60781204 on Build GRCh38
rs769625033 Chr.8: 60781102-60781102 on Build GRCh38
rs764607908 Chr.8: 60781146-60781146 on Build GRCh38
rs752116266 Chr.8: 60781233-60781233 on Build GRCh38
rs910478522 Chr.8: 60781260-60781260 on Build GRCh38
rs879211256 Chr.8: 60781178-60781178 on Build GRCh38
rs777624090 Chr.8: 60781248-60781248 on Build GRCh38

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