Product Details

SNP ID
rs139068755
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82906613 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAAGAAACAGAGTGTCTGCTAC[A/G]AGCTCAATTTTCAGGTACTTCCCCC
Phenotype
MIM: 610257 MIM: 612537
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SEC31A PubMed Links

Gene Details

Gene
SEC31A
Gene Name
SEC31 homolog A, COPII coat complex component
There are no transcripts associated with this gene.

Gene
SNORD144
Gene Name
small nucleolar RNA, C/D box 144
There are no transcripts associated with this gene.

Gene
THAP9
Gene Name
THAP domain containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317776.1 666 Missense Mutation CAA,CGA Q45R NP_001304705.1
NM_024672.5 666 Missense Mutation CAA,CGA Q189R NP_078948.3
XM_005263220.2 666 Missense Mutation CAA,CGA Q45R XP_005263277.1
XM_011532246.2 666 UTR 5 XP_011530548.1
XM_017008603.1 666 Missense Mutation CAA,CGA Q202R XP_016864092.1
XM_017008604.1 666 Missense Mutation CAA,CGA Q45R XP_016864093.1
XM_017008605.1 666 Missense Mutation CAA,CGA Q45R XP_016864094.1
XM_017008606.1 666 Missense Mutation CAA,CGA Q45R XP_016864095.1
XM_017008607.1 666 Missense Mutation CAA,CGA Q45R XP_016864096.1
XM_017008608.1 666 Missense Mutation CAA,CGA Q45R XP_016864097.1
XM_017008609.1 666 UTR 5 XP_016864098.1
XM_017008610.1 666 UTR 5 XP_016864099.1
Gene
THAP9-AS1
Gene Name
THAP9 antisense RNA 1
There are no transcripts associated with this gene.

View Full Product Details