Product Details

SNP ID
rs113958504
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:60678877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAACTATCGGATTAAACTTGAAT[C/T]GAGTGAAATTACACAAAGGAGCGCC
Phenotype
MIM: 608892
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHD7 PubMed Links

Gene Details

Gene
CHD7
Gene Name
chromodomain helicase DNA binding protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316690.1 134 Intron NP_001303619.1
NM_017780.3 134 UTR 5 NP_060250.2
XM_011517553.2 134 UTR 5 XP_011515855.1
XM_011517554.2 134 Intron XP_011515856.1
XM_011517555.2 134 UTR 5 XP_011515857.1
XM_011517560.2 134 UTR 5 XP_011515862.1
XM_017013612.1 134 Intron XP_016869101.1
XM_017013613.1 134 UTR 5 XP_016869102.1

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