Product Details

SNP ID
rs146521448
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137039984 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGCACTCACCGGGGCCAGGCCC[A/G]GGCACTCGTACACCGTGAAGTCTCC
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 1107 Missense Mutation CCG,CTG P291L NP_056207.3

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