Product Details

SNP ID

rs141869514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:46853494 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCAGGTTGATCCAAAAGACTAC[A/G]TGTTCAGTGGACTGAAGGATGAAAC

Phenotype

MIM: 300757

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RP2 PubMed Links

Gene Details

Gene

RP2

Gene Name

retinitis pigmentosa 2 (X-linked recessive)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006915.2	310	Missense Mutation	ATG,GTG	M41V	NP_008846.2

View Full Product Details