Product Details

SNP ID
rs182920176
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:21288032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTTGCCAGTTAGAGACATAGATG[C/G]TATACCTCTGGTGCTACCAGCCTCA
Phenotype
MIM: 605446
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RPGRIP1 PubMed Links

Gene Details

Gene
RPGRIP1
Gene Name
retinitis pigmentosa GTPase regulator interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020366.3 56 Missense Mutation GCT,GGT A19G NP_065099.3
XM_005267879.2 56 Intron XP_005267936.1
XM_005267880.2 56 Intron XP_005267937.1
XM_005267881.3 56 Intron XP_005267938.1
XM_011536978.1 56 Intron XP_011535280.1
XM_011536979.1 56 Intron XP_011535281.1
XM_011536980.1 56 Intron XP_011535282.1
XM_011536981.1 56 Intron XP_011535283.1
XM_011536982.1 56 Intron XP_011535284.1
XM_017021473.1 56 Intron XP_016876962.1

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