Product Details

SNP ID

rs115938195

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:33100558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATAAGCCCAGGAGGAGGTTTTTC[A/G]TAACTGGAAAACAAAAAACAAAACC

Phenotype

MIM: 607331

Polymorphism

A/G, 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	650	Intron			NP_976033.1
XM_011515468.2	650	Silent Mutation	TAC,TAT	Y18Y	XP_011513770.1

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