Product Details

SNP ID
rs201797572
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:34552219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCCAGGGCCAGAGTGATGGGGA[C/T]GCTGACCAAGAAGGGTGCCGAGGGT
Phenotype
MIM: 118946
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CNTFR PubMed Links

Gene Details

Gene
CNTFR
Gene Name
ciliary neurotrophic factor receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207011.1 1230 Missense Mutation ATC,GTC I354V NP_001193940.1
NM_001842.4 1230 Missense Mutation ATC,GTC I354V NP_001833.1
NM_147164.2 1230 Missense Mutation ATC,GTC I354V NP_671693.1
XM_017014260.1 1230 Missense Mutation ATC,GTC I421V XP_016869749.1
XM_017014261.1 1230 Missense Mutation ATC,GTC I421V XP_016869750.1
XM_017014262.1 1230 Missense Mutation ATC,GTC I421V XP_016869751.1
XM_017014263.1 1230 Missense Mutation ATC,GTC I354V XP_016869752.1
XM_017014264.1 1230 Missense Mutation ATC,GTC I354V XP_016869753.1
XM_017014265.1 1230 Missense Mutation ATC,GTC I354V XP_016869754.1

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