Product Details

SNP ID
rs145289281
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38269750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTTTTAAAATGATCTGGTCTCCT[A/G]TGGATTTTATCTCTGGGAGCGGCTC
Phenotype
MIM: 312610
Polymorphism
A/G, 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 2492 Missense Mutation ACA,ATA T775I NP_000319.1
NM_001034853.1 2492 Intron NP_001030025.1
XM_005272633.2 2492 Missense Mutation ACA,ATA T664I XP_005272690.1
XM_011543940.2 2492 Missense Mutation ACA,ATA T774I XP_011542242.1
XM_017029710.1 2492 Missense Mutation ACA,ATA T980I XP_016885199.1
XM_017029711.1 2492 Missense Mutation ACA,ATA T979I XP_016885200.1
XM_017029712.1 2492 Missense Mutation ACA,ATA T663I XP_016885201.1

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