Product Details

SNP ID
rs146209157
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39098483 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAAACTCTGACCCAGACCATGTA[G/T]CCTCACCTGCAACACAGAAGATCAG
Phenotype
MIM: 606867 MIM: 611430 MIM: 612167
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GORASP1 PubMed Links

Gene Details

Gene
GORASP1
Gene Name
golgi reassembly stacking protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278789.1 1818 Missense Mutation GAT,GCT D264A NP_001265718.1
NM_001278790.1 1818 Missense Mutation GAT,GCT D204A NP_001265719.1
NM_031899.3 1818 Missense Mutation GAT,GCT D359A NP_114105.1
XM_006713301.3 1818 Missense Mutation GAT,GCT D364A XP_006713364.1
XM_011534020.2 1818 Missense Mutation GAT,GCT D334A XP_011532322.1
XM_011534021.2 1818 Missense Mutation GAT,GCT D304A XP_011532323.1
XM_017007050.1 1818 Missense Mutation GAT,GCT D329A XP_016862539.1
XM_017007051.1 1818 Missense Mutation GAT,GCT D299A XP_016862540.1
XM_017007052.1 1818 Missense Mutation GAT,GCT D202A XP_016862541.1
Gene
TTC21A
Gene Name
tetratricopeptide repeat domain 21A
There are no transcripts associated with this gene.

Gene
WDR48
Gene Name
WD repeat domain 48
There are no transcripts associated with this gene.

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