Product Details

SNP ID
rs143836975
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78676125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCGTGGAGGAGACCTTCTTTTTC[C/T]GTGCTGCGAGCATTTCGTAGAAAGG
Phenotype
MIM: 182115
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CYTH1 PubMed Links

Gene Details

Gene
CYTH1
Gene Name
cytohesin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292018.1 1679 Missense Mutation CAG,CGG Q329R NP_001278947.1
NM_001292019.1 1679 Missense Mutation CAG,CGG Q329R NP_001278948.1
NM_004762.3 1679 Missense Mutation CAG,CGG Q388R NP_004753.1
NM_017456.3 1679 Missense Mutation CAG,CGG Q387R NP_059430.2
XM_011525475.2 1679 UTR 3 XP_011523777.1
XM_011525476.2 1679 UTR 3 XP_011523778.1
XM_011525477.1 1679 Missense Mutation CAG,CGG Q329R XP_011523779.1
XM_011525478.1 1679 Missense Mutation CAG,CGG Q225R XP_011523780.1
XM_017025336.1 1679 Missense Mutation CAG,CGG Q389R XP_016880825.1
XM_017025337.1 1679 UTR 3 XP_016880826.1
XM_017025338.1 1679 Missense Mutation CAG,CGG Q328R XP_016880827.1

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