Product Details

SNP ID
rs138864486
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39098861 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCACACACTGGCATTGCTGTTGT[A/C]CAAGAGAGAAATTCCCGACACGTCC
Phenotype
MIM: 606867 MIM: 611430 MIM: 612167
Polymorphism
A/C, 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 1691 Missense Mutation GAC,TAC D222Y NP_001265718.1
NM_001278790.1 1691 Missense Mutation GAC,TAC D162Y NP_001265719.1
NM_031899.3 1691 Missense Mutation GAC,TAC D317Y NP_114105.1
XM_006713301.3 1691 Missense Mutation GAC,TAC D322Y XP_006713364.1
XM_011534020.2 1691 Missense Mutation GAC,TAC D292Y XP_011532322.1
XM_011534021.2 1691 Missense Mutation GAC,TAC D262Y XP_011532323.1
XM_017007050.1 1691 Missense Mutation GAC,TAC D287Y XP_016862539.1
XM_017007051.1 1691 Missense Mutation GAC,TAC D257Y XP_016862540.1
XM_017007052.1 1691 Missense Mutation GAC,TAC D160Y 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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