Product Details

SNP ID

rs201239238

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137009791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCAGGAAGATGAAGGCTGGGTAC[C/T]CAATGAGGGCGATGGCCGTGGAGAG

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	6690	Missense Mutation	GAG,GGG	E2203G	NP_001597.2
NM_212533.2	6690	Missense Mutation	GAG,GGG	E2233G	NP_997698.1
XM_006716996.3	6690	Missense Mutation	GAG,GGG	E2202G	XP_006717059.1

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