Product Details

SNP ID

rs104894927

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:46853731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAGCCTGCCAACAATTTCGTGTG[C/T]GAGATTGTAGAAAGCTGGAAGTCTT

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	547	Nonsense Mutation	CGA,TGA	R120*	NP_008846.2

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