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SNP ID

rs116627664

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:93997063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGATGAAAGAGTTCTATCGGGG[A/G]TGGTGGTAACGGTTGCACAACAATG

Phenotype

MIM: 601691

Polymorphism

A/G, 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		Intron			NP_000341.2

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