Product Details

SNP ID

rs201031732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21354469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTCGAAGAAGCCCTCAGGGTCA[C/T]CAACAATGGTCTTCATGATTTTAGT

Phenotype

MIM: 605446 MIM: 605012

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPGRIP1 PubMed Links

Gene Details

Gene

RPGRIP1

Gene Name

retinitis pigmentosa GTPase regulator interacting protein 1

There are no transcripts associated with this gene.

Gene

SUPT16H

Gene Name

SPT16 homolog, facilitates chromatin remodeling subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007192.3	3071	Missense Mutation	GAT,GGT	D911G	NP_009123.1
XM_011536381.2	3071	Intron			XP_011534683.1

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