Product Details

SNP ID
rs17857512
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:25136193 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAACAGGTCTTGTTTCTTCATTGT[C/T]TTCCATATTCAAGAACAACTCTTCT
Phenotype
MIM: 616071
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C7orf31 PubMed Links

Gene Details

Gene
C7orf31
Gene Name
chromosome 7 open reading frame 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138811.3 1004 Missense Mutation AAC,GAC N518D NP_620166.3
XM_005249619.3 1004 Missense Mutation AAC,GAC N518D XP_005249676.1
XM_005249620.3 1004 Missense Mutation AAC,GAC N518D XP_005249677.1
XM_011515125.2 1004 Missense Mutation AAC,GAC N308D XP_011513427.1

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