Product Details

SNP ID
rs184502134
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39098846 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGAGGGCAGGCTGGGCCACACAC[C/T]GGCATTGCTGTTGTCCAAGAGAGAA
Phenotype
MIM: 606867 MIM: 611430 MIM: 612167
Polymorphism
C/T, Transition 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 1706 Missense Mutation AGT,GGT S227G NP_001265718.1
NM_001278790.1 1706 Missense Mutation AGT,GGT S167G NP_001265719.1
NM_031899.3 1706 Missense Mutation AGT,GGT S322G NP_114105.1
XM_006713301.3 1706 Missense Mutation AGT,GGT S327G XP_006713364.1
XM_011534020.2 1706 Missense Mutation AGT,GGT S297G XP_011532322.1
XM_011534021.2 1706 Missense Mutation AGT,GGT S267G XP_011532323.1
XM_017007050.1 1706 Missense Mutation AGT,GGT S292G XP_016862539.1
XM_017007051.1 1706 Missense Mutation AGT,GGT S262G XP_016862540.1
XM_017007052.1 1706 Missense Mutation AGT,GGT S165G 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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