Product Details

SNP ID

rs199957632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:133352015 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAACTGTGCCAGCAGGGCCTGGG[A/G]CGCCCGTGTGGTGGAGCCTCCGGAG

Phenotype

MIM: 609776

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FUOM PubMed Links

Gene Details

Gene

FUOM

Gene Name

fucose mutarotase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098483.2	215	Intron			NP_001091953.1
NM_001301827.1	215	Intron			NP_001288756.1
NM_001301828.1	215	Intron			NP_001288757.1
NM_198472.2	215	Intron			NP_940874.2
XM_011539670.2	215	Intron			XP_011537972.1
XM_011539671.2	215	Intron			XP_011537973.1
XM_011539672.2	215	Intron			XP_011537974.1
XM_011539673.2	215	Intron			XP_011537975.1
XM_011539674.2	215	Intron			XP_011537976.1
XM_011539675.2	215	Intron			XP_011537977.1
XM_017016094.1	215	Intron			XP_016871583.1

Gene

PRAP1

Gene Name

proline rich acidic protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145201.1	215	Missense Mutation	GAC,GGC	D46G	NP_001138673.1
NM_145202.4	215	Missense Mutation	GAC,GGC	D46G	NP_660203.3

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