Product Details

SNP ID
rs140895976
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38269758 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATGATCTGGTCTCCTATGGATTT[C/T]ATCTCTGGGAGCGGCTCATTGTTAT
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 2484 Missense Mutation ATA,ATG I772M NP_000319.1
NM_001034853.1 2484 Intron NP_001030025.1
XM_005272633.2 2484 Missense Mutation ATA,ATG I661M XP_005272690.1
XM_011543940.2 2484 Missense Mutation ATA,ATG I771M XP_011542242.1
XM_017029710.1 2484 Missense Mutation ATA,ATG I977M XP_016885199.1
XM_017029711.1 2484 Missense Mutation ATA,ATG I976M XP_016885200.1
XM_017029712.1 2484 Missense Mutation ATA,ATG I660M XP_016885201.1

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