Product Details

SNP ID

rs77293072

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:93996193 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCTGTTTAGCAAAATTTACAAA[C/T]ACCTAGAGGTAAGAGAAGAGCGAGA

Phenotype

MIM: 601691

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABCA4 PubMed Links

Gene Details

Gene

ABCA4

Gene Name

ATP binding cassette subfamily A member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000350.2	6836	Silent Mutation	GTA,GTG	V2244V	NP_000341.2

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