Product Details

SNP ID
rs147649203
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38269751 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTTAAAATGATCTGGTCTCCTA[C/T]GGATTTTATCTCTGGGAGCGGCTCA
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 2491 Missense Mutation ATA,GTA I775V NP_000319.1
NM_001034853.1 2491 Intron NP_001030025.1
XM_005272633.2 2491 Missense Mutation ATA,GTA I664V XP_005272690.1
XM_011543940.2 2491 Missense Mutation ATA,GTA I774V XP_011542242.1
XM_017029710.1 2491 Missense Mutation ATA,GTA I980V XP_016885199.1
XM_017029711.1 2491 Missense Mutation ATA,GTA I979V XP_016885200.1
XM_017029712.1 2491 Missense Mutation ATA,GTA I663V XP_016885201.1

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