Product Details

SNP ID
rs188707447
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:72179342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTCCGGGGTCACCCTTCATGAG[C/T]GGTGGCTGCTGATGAGTCCTCGGAG
Phenotype
MIM: 607880
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EXOC6B PubMed Links

Gene Details

Gene
EXOC6B
Gene Name
exocyst complex component 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321729.1 1865 Missense Mutation CAC,CGC H814R NP_001308658.1
NM_001321730.1 1865 Missense Mutation CAC,CGC H769R NP_001308659.1
NM_001321731.1 1865 UTR 3 NP_001308660.1
NM_001321733.1 1865 Missense Mutation CAC,CGC H765R NP_001308662.1
NM_001321734.1 1865 Missense Mutation CAC,CGC H701R NP_001308663.1
NM_015189.2 1865 Missense Mutation CAC,CGC H810R NP_056004.1
XM_005264224.1 1865 Missense Mutation CAC,CGC H482R XP_005264281.1
XM_011532711.2 1865 Intron XP_011531013.1
XM_011532712.2 1865 Intron XP_011531014.1
XM_017003641.1 1865 Missense Mutation CAC,CGC H632R XP_016859130.1
XM_017003642.1 1865 Missense Mutation CAC,CGC H482R XP_016859131.1

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