Product Details

SNP ID
rs28999110
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4901071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGATGATGTTAATGACGTAGAAGA[A/G]CGGCTTCCGGCGGATGATGAGCGAG
Phenotype
MIM: 100725 MIM: 609426
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C17orf107 PubMed Links

Gene Details

Gene
C17orf107
Gene Name
chromosome 17 open reading frame 107
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145536.1 751 UTR 3 NP_001139008.1
Gene
CHRNE
Gene Name
cholinergic receptor nicotinic epsilon subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000080.3 751 Missense Mutation CTC,TTC L241F NP_000071.1
XM_017024115.1 751 Missense Mutation CTC,TTC L229F XP_016879604.1
Gene
MINK1
Gene Name
misshapen like kinase 1
There are no transcripts associated with this gene.

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