Product Details

SNP ID
rs138671246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:215504 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTTTTTATTTCTTCAGAAGGAG[A/G]CTAAAAATGAGAAAGAAGAATGTTT
Phenotype
MIM: 606930 MIM: 607274
Polymorphism
A/G, Transition 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 1664 Missense Mutation CCT,TCT P535S NP_005122.2
XM_011525772.2 1664 Missense Mutation CCT,TCT P542S XP_011524074.1
XM_011525773.1 1664 Missense Mutation CCT,TCT P404S XP_011524075.1
XM_011525774.2 1664 Missense Mutation CCT,TCT P235S XP_011524076.1
XM_017026103.1 1664 Missense Mutation CCT,TCT P404S XP_016881592.1
XM_017026104.1 1664 Intron XP_016881593.1
Gene
USP14
Gene Name
ubiquitin specific peptidase 14
There are no transcripts associated with this gene.

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