Product Details

SNP ID
rs3213758
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:53605526 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGGTCCCTCCCTTCCTGAAACATGT[C/T]GGCAAGGTCGACGTGAGCCACGCCA
Phenotype
MIM: 610937
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RPGRIP1L PubMed Links

Gene Details

Gene
RPGRIP1L
Gene Name
RPGRIP1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005255867.1 3834 Missense Mutation AAC,GAC N1230D XP_005255924.1
XM_005255868.1 3834 Missense Mutation AAC,GAC N1222D XP_005255925.1
XM_011522970.1 3834 Intron XP_011521272.1
XM_011522971.2 3834 Intron XP_011521273.1
XM_011522973.2 3834 Intron XP_011521275.1
XM_017023094.1 3834 Missense Mutation AAC,GAC N1268D XP_016878583.1
XM_017023095.1 3834 Missense Mutation AAC,GAC N1188D XP_016878584.1
XM_017023096.1 3834 Intron XP_016878585.1
XM_017023097.1 3834 Intron XP_016878586.1
XM_017023098.1 3834 Missense Mutation AAC,GAC N679D XP_016878587.1
XM_017023099.1 3834 Missense Mutation AAC,GAC N679D XP_016878588.1
XM_017023100.1 3834 Intron XP_016878589.1

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