Product Details

SNP ID

rs200942220

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137008576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGCGGATGGCGGCTCCGTCTCC[C/T]GCTGCTCCAGGTTGTCACTCTGCTT

Phenotype

MIM: 600047

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABCA2 PubMed Links

Gene Details

Gene

ABCA2

Gene Name

ATP binding cassette subfamily A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001606.4	7197	Missense Mutation	CAG,CGG	Q2372R	NP_001597.2
NM_212533.2	7197	Missense Mutation	CAG,CGG	Q2402R	NP_997698.1
XM_006716996.3	7197	Missense Mutation	CAG,CGG	Q2371R	XP_006717059.1

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