Product Details

SNP ID
rs145228857
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:63834172 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTCCATGCTTGCTTCCTGAGCT[G/T]CTTCTACCTCTGAGAGTTTTTCATC
Phenotype
MIM: 611965
Polymorphism
G/T, 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_001285387.2 657 Missense Mutation GAA,GCA E140A NP_001272316.1
NM_001285404.1 657 Missense Mutation GAA,GCA E140A NP_001272333.1
NM_025075.3 657 Missense Mutation GAA,GCA E192A NP_079351.2
XM_006713339.3 657 Missense Mutation GAA,GCA E140A XP_006713402.1

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