Product Details

SNP ID

rs200109773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:98856391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATCAGTTTTTGTTATGTTTTCC[A/G]ACTACTCCAGGTATGCTCCGGTGTA

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	3070	Missense Mutation	CGG,TGG	R1708W	NP_001261.2
XM_005271866.4	3070	Missense Mutation	CGG,TGG	R1796W	XP_005271923.1
XM_005271867.4	3070	Missense Mutation	CGG,TGG	R1708W	XP_005271924.1
XM_011543112.2	3070	UTR 3			XP_011541414.1
XM_017008991.1	3070	Missense Mutation	CGG,TGG	R867W	XP_016864480.1
XM_017008992.1	3070	Missense Mutation	CGG,TGG	R867W	XP_016864481.1

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