Product Details

SNP ID

rs150403388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137010206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCCGCCCCACCTGTGTCCATTGA[C/T]GAAGGCCTCGCCCCCCGTCGTGCTC

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	6422	Missense Mutation	ATC,GTC	I2114V	NP_001597.2
NM_212533.2	6422	Missense Mutation	ATC,GTC	I2144V	NP_997698.1
XM_006716996.3	6422	Missense Mutation	ATC,GTC	I2113V	XP_006717059.1

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