Product Details

SNP ID

hCV27541507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:46853695 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGTTTTTCCGGAATTGCAGAGAT[G/T]GCAAGTGCACATTAGCCTGCCAACA

Phenotype

MIM: 300757

Polymorphism

G/T, Transversion 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	511	Missense Mutation	GGC,TGC	G108C	NP_008846.2

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