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SNP ID: rs77888472
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:4900101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCCACCCTGGGGCTGGTGTTGAGA[A/G]AAGCCACAGCCAGCCTCGTGAGCTT
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	342	Missense Mutation	AAA,GAA	K78E	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	342	Intron			NP_000071.1
XM_017024115.1	342	Intron			XP_016879604.1

Gene: MINK1
Gene Name: misshapen like kinase 1

There are no transcripts associated with this gene.

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