Product Details

SNP ID
rs34117835
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38269772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTATGGATTTTATCTCTGGGAGCG[G/T]CTCATTGTTATTCTTGACAATCTTT
Phenotype
MIM: 312610
Polymorphism
G/T, Transversion 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 2470 Missense Mutation ACG,CCG T768P NP_000319.1
NM_001034853.1 2470 Intron NP_001030025.1
XM_005272633.2 2470 Missense Mutation ACG,CCG T657P XP_005272690.1
XM_011543940.2 2470 Missense Mutation ACG,CCG T767P XP_011542242.1
XM_017029710.1 2470 Missense Mutation ACG,CCG T973P XP_016885199.1
XM_017029711.1 2470 Missense Mutation ACG,CCG T972P XP_016885200.1
XM_017029712.1 2470 Missense Mutation ACG,CCG T656P XP_016885201.1

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