Product Details

SNP ID
rs113968324
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:38269709 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATTCTGACTCATGTGGTTCTGGT[C/T]GGCATCTTTATTATCACTTTTTAAA
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 2533 Missense Mutation AAC,GAC N789D NP_000319.1
NM_001034853.1 2533 Intron NP_001030025.1
XM_005272633.2 2533 Missense Mutation AAC,GAC N678D XP_005272690.1
XM_011543940.2 2533 Missense Mutation AAC,GAC N788D XP_011542242.1
XM_017029710.1 2533 Missense Mutation AAC,GAC N994D XP_016885199.1
XM_017029711.1 2533 Missense Mutation AAC,GAC N993D XP_016885200.1
XM_017029712.1 2533 Missense Mutation AAC,GAC N677D XP_016885201.1

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