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SNP ID

rs104894532

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:8797908 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCAGCGCCTGGCCCAGCGCTCT[A/G]CCTCTTCGACGTGGATGGGACCCTC

Phenotype

MIM: 601785

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PMM2 PubMed Links

Gene Details

Gene

PMM2

Gene Name

phosphomannomutase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000303.2		Intron			NP_000294.1
XM_005255374.4		Intron			XP_005255431.1

Gene

TMEM186

Gene Name

transmembrane protein 186

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015421.3		Intron			NP_056236.2

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