Product Details

SNP ID

rs139171143

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4898816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAGGAAGATGAGGCTGGAGCCCA[C/G]GCTGAAGAGCACCAGAGCGGCCCAG

Phenotype

MIM: 100725 MIM: 609426

Polymorphism

C/G, Transversion 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	1432	Intron			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	1432	Missense Mutation	CTG,GTG	L468V	NP_000071.1
XM_017024115.1	1432	Missense Mutation	CTG,GTG	L456V	XP_016879604.1

Gene

MINK1

Gene Name

misshapen like kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024937.3	1432	Intron			NP_001020108.1
NM_001321236.1	1432	Intron			NP_001308165.1
NM_015716.4	1432	Intron			NP_056531.1
NM_153827.4	1432	Intron			NP_722549.2
NM_170663.4	1432	Intron			NP_733763.1
XM_006721531.2	1432	Intron			XP_006721594.1
XM_006721532.2	1432	Intron			XP_006721595.1
XM_006721536.2	1432	Intron			XP_006721599.1
XM_011523906.1	1432	Intron			XP_011522208.1
XM_017024704.1	1432	Intron			XP_016880193.1
XM_017024705.1	1432	Intron			XP_016880194.1
XM_017024706.1	1432	Intron			XP_016880195.1
XM_017024707.1	1432	Intron			XP_016880196.1
XM_017024708.1	1432	Intron			XP_016880197.1

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