Product Details

SNP ID
rs201927192
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:656281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCACTTGCACCATGCTCTCCAGGT[C/G]TCTGTTTTCAGGCACACCCACAGCC
Phenotype
MIM: 615329 MIM: 609713
Polymorphism
C/G, 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_018303.5 684 Intron NP_060773.3
XM_017011018.1 684 Intron XP_016866507.1
XM_017011019.1 684 Intron XP_016866508.1
XM_017011020.1 684 Intron XP_016866509.1
XM_017011021.1 684 Intron XP_016866510.1
XM_017011022.1 684 Intron XP_016866511.1
XM_017011023.1 684 Intron XP_016866512.1
XM_017011024.1 684 Intron XP_016866513.1
XM_017011025.1 684 Intron XP_016866514.1
XM_017011026.1 684 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_148959.3 684 Missense Mutation CAC,GAC H222D NP_683762.2

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