Product Details

SNP ID

hCV27540395

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:46853657 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTAACTGCATAATTTTTCTGGGAC[C/T]CGTGAAAGGCAGCGTGTTTTTCCGG

Phenotype

MIM: 300757

Polymorphism

C/T, 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	473	Missense Mutation	CCC,CTC	P95L	NP_008846.2

View Full Product Details