Product Details

SNP ID
rs146973924
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39099361 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGCCTGCCCAGTACCTGGGTCC[A/G]TAACTCGCTGCACTGGAGGTGGGGG
Phenotype
MIM: 606867 MIM: 611430 MIM: 612167
Polymorphism
A/G, 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 1650 Missense Mutation ACG,ATG T208M NP_001265718.1
NM_001278790.1 1650 Missense Mutation ACG,ATG T148M NP_001265719.1
NM_031899.3 1650 Missense Mutation ACG,ATG T303M NP_114105.1
XM_006713301.3 1650 Missense Mutation ACG,ATG T308M XP_006713364.1
XM_011534020.2 1650 Missense Mutation ACG,ATG T278M XP_011532322.1
XM_011534021.2 1650 Missense Mutation ACG,ATG T248M XP_011532323.1
XM_017007050.1 1650 Missense Mutation ACG,ATG T273M XP_016862539.1
XM_017007051.1 1650 Missense Mutation ACG,ATG T243M XP_016862540.1
XM_017007052.1 1650 Missense Mutation ACG,ATG T146M 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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