Product Details

SNP ID

rs112217438

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:93993153 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTCATTTACGCTGGCCAGTCCAT[G/T]TGGATGACCATATGGGCACAGGCTC

Phenotype

MIM: 601691

Polymorphism

G/T, Transversion 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	7010	UTR 3			NP_000341.2

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