Product Details

SNP ID
rs146540815
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:98856583 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGCGTATATTCAGAACTTGACC[A/G]GTGGTCTGAATGTAACCGATGATCT
Phenotype
MIM: 602118
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHD1 PubMed Links

Gene Details

Gene
CHD1
Gene Name
chromodomain helicase DNA binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270.2 2878 Silent Mutation AGG,GGG R1644G NP_001261.2
XM_005271866.4 2878 Missense Mutation XP_005271923.1
XM_005271867.4 2878 Missense Mutation XP_005271924.1
XM_011543112.2 2878 UTR 3 XP_011541414.1
XM_017008991.1 2878 Missense Mutation XP_016864480.1
XM_017008992.1 2878 Missense Mutation XP_016864481.1

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