Product Details

SNP ID
rs140289523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:63835329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAAATATATATGCGAATACCTTAT[C/G]TTCAACACTTTCTTTAATGTGTGAA
Phenotype
MIM: 611965
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
C3orf49 PubMed Links

Gene Details

Gene
C3orf49
Gene Name
chromosome 3 open reading frame 49
There are no transcripts associated with this gene.

Gene
THOC7
Gene Name
THO complex 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001285387.2 554 Missense Mutation CAT,GAT H106D NP_001272316.1
NM_001285404.1 554 Missense Mutation CAT,GAT H106D NP_001272333.1
NM_025075.3 554 Missense Mutation CAT,GAT H158D NP_079351.2
XM_006713339.3 554 Missense Mutation CAT,GAT H106D XP_006713402.1

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