Product Details

SNP ID
rs625223
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.10:21125963 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
GGGGACTTGGCCCAGTTGCCTGGAT[C/G]TGGTTCAGGAGCTGCCTGGATGGGC
Phenotype
MIM: 605491
Polymorphism
C/G, Transversion 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_001010896.2 379 Missense Mutation CAT,GAT H110D NP_001010896.2
NM_001177483.1 379 UTR 3 NP_001170954.1
Gene
NEBL
Gene Name
nebulette
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173484.1 379 Intron NP_001166955.1
NM_006393.2 379 Intron NP_006384.1
NM_213569.2 379 Intron NP_998734.1
XM_005252342.4 379 Intron XP_005252399.1
XM_005252343.4 379 Intron XP_005252400.1
XM_005252344.4 379 Intron XP_005252401.1
XM_011519291.2 379 Intron XP_011517593.1
XM_017015467.1 379 Intron XP_016870956.1
XM_017015468.1 379 Intron XP_016870957.1
XM_017015469.1 379 Intron XP_016870958.1

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