Product Details

SNP ID
rs188344467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82906369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAGGTAAAGCAAGACAAAAAATC[C/G]TAAAACAACCTCTTCCAGACAATTC
Phenotype
MIM: 610257 MIM: 612537
Polymorphism
C/G, Transversion 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_001317776.1 422 UTR 5 NP_001304705.1
NM_024672.5 422 Missense Mutation CTA,GTA L108V NP_078948.3
XM_005263220.2 422 UTR 5 XP_005263277.1
XM_011532246.2 422 UTR 5 XP_011530548.1
XM_017008603.1 422 Missense Mutation CTA,GTA L121V XP_016864092.1
XM_017008604.1 422 UTR 5 XP_016864093.1
XM_017008605.1 422 UTR 5 XP_016864094.1
XM_017008606.1 422 UTR 5 XP_016864095.1
XM_017008607.1 422 UTR 5 XP_016864096.1
XM_017008608.1 422 UTR 5 XP_016864097.1
XM_017008609.1 422 UTR 5 XP_016864098.1
XM_017008610.1 422 UTR 5 XP_016864099.1
Gene
THAP9-AS1
Gene Name
THAP9 antisense RNA 1
There are no transcripts associated with this gene.

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