Product Details

SNP ID
rs201719568
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:21126110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGGCCCTTCTCGGCTCTCCGTT[C/G]TGCCTTACCAGGCCTATGGGATAAA
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_001010896.2 232 Missense Mutation CAA,GAA Q61E NP_001010896.2
NM_001177483.1 232 Missense Mutation CAC,CAG H72Q NP_001170954.1
Gene
NEBL
Gene Name
nebulette
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173484.1 232 Intron NP_001166955.1
NM_006393.2 232 Intron NP_006384.1
NM_213569.2 232 Intron NP_998734.1
XM_005252342.4 232 Intron XP_005252399.1
XM_005252343.4 232 Intron XP_005252400.1
XM_005252344.4 232 Intron XP_005252401.1
XM_011519291.2 232 Intron XP_011517593.1
XM_017015467.1 232 Intron XP_016870956.1
XM_017015468.1 232 Intron XP_016870957.1
XM_017015469.1 232 Intron XP_016870958.1

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