Product Details

SNP ID
rs117482778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:39096750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGAAAGAAACCTCTGGTTTCAT[A/G]TTCTCCCTGGAAATATTAGCATTGA
Phenotype
MIM: 606867 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 3551 UTR 3 NP_001265718.1
NM_001278790.1 3551 UTR 3 NP_001265719.1
NM_031899.3 3551 UTR 3 NP_114105.1
XM_006713301.3 3551 UTR 3 XP_006713364.1
XM_011534020.2 3551 UTR 3 XP_011532322.1
XM_011534021.2 3551 UTR 3 XP_011532323.1
XM_017007050.1 3551 UTR 3 XP_016862539.1
XM_017007051.1 3551 UTR 3 XP_016862540.1
XM_017007052.1 3551 UTR 3 XP_016862541.1
Gene
WDR48
Gene Name
WD repeat domain 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303402.1 3551 Intron NP_001290331.1
NM_001303403.1 3551 Intron NP_001290332.1
NM_020839.3 3551 Intron NP_065890.1
XM_005265346.3 3551 Intron XP_005265403.1
XM_011533971.1 3551 Intron XP_011532273.1
XM_017006960.1 3551 Intron XP_016862449.1

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