Product Details

SNP ID

rs5917556

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:38277830 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAATCTTTAGTAGGTGGTTGGAAAA[C/T]AATGCCTCTAAAATTTAACTCACCT

Phenotype

MIM: 312610

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RPGR PubMed Links

Gene Details

Gene

RPGR

Gene Name

retinitis pigmentosa GTPase regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000328.2		Intron			NP_000319.1
NM_001034853.1		Intron			NP_001030025.1
XM_005272633.2		Intron			XP_005272690.1
XM_011543940.2		Intron			XP_011542242.1
XM_017029710.1		Intron			XP_016885199.1
XM_017029711.1		Intron			XP_016885200.1
XM_017029712.1		Intron			XP_016885201.1

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