Product Details

SNP ID
rs201999223
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:486703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCATCATGGTTGAAGAAGCTGCTT[A/G]GAAACAGGTGAGCTGCAAGTGCATG
Phenotype
MIM: 615329
Polymorphism
A/G, Transition 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 2955 Nonsense Mutation CAA,TAA Q915* NP_060773.3
XM_017011018.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866507.1
XM_017011019.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866508.1
XM_017011020.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866509.1
XM_017011021.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866510.1
XM_017011022.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866511.1
XM_017011023.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866512.1
XM_017011024.1 2955 Nonsense Mutation CAA,TAA Q915* XP_016866513.1
XM_017011025.1 2955 Intron XP_016866514.1
XM_017011026.1 2955 Intron XP_016866515.1

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