Product Details

SNP ID
rs657541
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:214643 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAGAAGCTAACTATTTGTCTCAT[G/T]GTCATTAGTTAGACTTTCTGCAAGG
Phenotype
MIM: 606930 MIM: 607274
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
THOC1 PubMed Links

Gene Details

Gene
THOC1
Gene Name
THO complex 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005131.2 2018 Missense Mutation NP_005122.2
XM_011525772.2 2018 Missense Mutation XP_011524074.1
XM_011525773.1 2018 Missense Mutation XP_011524075.1
XM_011525774.2 2018 Missense Mutation XP_011524076.1
XM_017026103.1 2018 Missense Mutation XP_016881592.1
XM_017026104.1 2018 Intron XP_016881593.1
Gene
USP14
Gene Name
ubiquitin specific peptidase 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037334.1 2018 Intron NP_001032411.1
NM_005151.3 2018 Intron NP_005142.1

View Full Product Details