Product Details

SNP ID
rs141063782
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:41405197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAGCATCATGGGCAGCATGCTC[A/C]GGGTACTTTTGACCTCTTCACCTGT
Phenotype
MIM: 616114
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CHD6 PubMed Links

Gene Details

Gene
CHD6
Gene Name
chromodomain helicase DNA binding protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032221.4 7177 Missense Mutation CGG,CTG R2515L NP_115597.3
XM_005260573.2 7177 Missense Mutation CGG,CTG R2493L XP_005260630.1
XM_005260576.4 7177 Missense Mutation CGG,CTG R1164L XP_005260633.1
XM_011529080.2 7177 Missense Mutation CGG,CTG R2513L XP_011527382.1
XM_011529082.2 7177 Missense Mutation CGG,CTG R1838L XP_011527384.1
XM_017028099.1 7177 Missense Mutation CGG,CTG R2516L XP_016883588.1
XM_017028100.1 7177 Missense Mutation CGG,CTG R2493L XP_016883589.1
XM_017028101.1 7177 Missense Mutation CGG,CTG R2468L XP_016883590.1
XM_017028102.1 7177 Intron XP_016883591.1
XM_017028103.1 7177 Missense Mutation CGG,CTG R2181L XP_016883592.1
XM_017028104.1 7177 Intron XP_016883593.1

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