Product Details

SNP ID

rs149371669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:8796118 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTTCTGTCAGGGGAATCACATCT[A/G]CCATGGGACAGTATGTGTCCTGCCG

Phenotype

MIM: 601785

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PMM2 PubMed Links

Gene Details

Gene

PMM2

Gene Name

phosphomannomutase 2

There are no transcripts associated with this gene.

Gene

TMEM186

Gene Name

transmembrane protein 186

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015421.3	510	Missense Mutation	GCA,GTA	A159V	NP_056236.2

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