Product Details

SNP ID
rs140484138
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:656146 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAATACTGAAGAGAGACATCTT[A/C]TTGAACCAAAACAAGCTGAAGAAGA
Phenotype
MIM: 615329 MIM: 609713
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EXOC2 PubMed Links

Gene Details

Gene
EXOC2
Gene Name
exocyst complex component 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018303.5 819 Intron NP_060773.3
XM_017011018.1 819 Intron XP_016866507.1
XM_017011019.1 819 Intron XP_016866508.1
XM_017011020.1 819 Intron XP_016866509.1
XM_017011021.1 819 Intron XP_016866510.1
XM_017011022.1 819 Intron XP_016866511.1
XM_017011023.1 819 Intron XP_016866512.1
XM_017011024.1 819 Intron XP_016866513.1
XM_017011025.1 819 Intron XP_016866514.1
XM_017011026.1 819 Intron XP_016866515.1
Gene
HUS1B
Gene Name
HUS1 checkpoint clamp component B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_148959.3 819 Nonsense Mutation GAA,TAA E267* NP_683762.2

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