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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