Product Details

SNP ID

rs193005763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137009775 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCCACCCAGGACTTACCAGGAA[A/G]ATGAAGGCTGGGTACCCAATGAGGG

Phenotype

MIM: 600047

Polymorphism

A/G, 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	6706	Silent Mutation	ATC,ATT	I2208I	NP_001597.2
NM_212533.2	6706	Silent Mutation	ATC,ATT	I2238I	NP_997698.1
XM_006716996.3	6706	Silent Mutation	ATC,ATT	I2207I	XP_006717059.1

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