Product Details

SNP ID
rs201996343
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:21126067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTTGCAGCCTTCTGGTCTCCCCA[A/G]CCAGCTTCCTGGGAGGCCTCAGGCC
Phenotype
MIM: 605491
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C10orf113 PubMed Links

Gene Details

Gene
C10orf113
Gene Name
chromosome 10 open reading frame 113
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010896.2 275 Missense Mutation GCT,GTT A75V NP_001010896.2
NM_001177483.1 275 UTR 3 NP_001170954.1
Gene
NEBL
Gene Name
nebulette
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173484.1 275 Intron NP_001166955.1
NM_006393.2 275 Intron NP_006384.1
NM_213569.2 275 Intron NP_998734.1
XM_005252342.4 275 Intron XP_005252399.1
XM_005252343.4 275 Intron XP_005252400.1
XM_005252344.4 275 Intron XP_005252401.1
XM_011519291.2 275 Intron XP_011517593.1
XM_017015467.1 275 Intron XP_016870956.1
XM_017015468.1 275 Intron XP_016870957.1
XM_017015469.1 275 Intron XP_016870958.1

View Full Product Details