Product Details

SNP ID

rs143311398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137039803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGCAGGCGGTGAGCTGGGGGCC[A/G]GCAGGGGCGCGGACAGTGCGGCGTG

Phenotype

MIM: 602012 MIM: 602030 MIM: 605798

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C9orf139 PubMed Links

Gene Details

Gene

C9orf139

Gene Name

chromosome 9 open reading frame 139

There are no transcripts associated with this gene.

Gene

ENTPD2

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

There are no transcripts associated with this gene.

Gene

FUT7

Gene Name

fucosyltransferase 7

There are no transcripts associated with this gene.

Gene

NPDC1

Gene Name

neural proliferation, differentiation and control 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015392.3	1182	Missense Mutation	CCG,CTG	P316L	NP_056207.3

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