Product Details

SNP ID

rs74832579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:54520630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCATTGAAGGAGTGGTCTCCATC[A/C]AAAAAAAAAAGAGAAGATTCTAAGT

Phenotype

MIM: 603937

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RP1 PubMed Links

Gene Details

Gene

RP1

Gene Name

retinitis pigmentosa 1 (autosomal dominant)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006269.1		Intron			NP_006260.1
XM_017013721.1		Intron			XP_016869210.1
XM_017013722.1		Intron			XP_016869211.1

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