Product Details

SNP ID

rs200418776

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:33097300 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAACTGCTCTAACTTTTGGTTGC[C/T]TTTGATAAAGAAAGGGCATTCTTTG

Phenotype

MIM: 607331

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RP9 PubMed Links

Gene Details

Gene

RP9

Gene Name

retinitis pigmentosa 9 (autosomal dominant)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203288.1	870	Intron			NP_976033.1
XM_011515468.2	870	Missense Mutation	AGC,GGC	S92G	XP_011513770.1

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