Product Details

SNP ID

rs201614590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38666178 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTCCCTATGGCTTCGGTGACCA[A/G]GGCCGTGTTTGGAGAGCTGCCCTCG

Phenotype

MIM: 137030

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GALM PubMed Links

Gene Details

Gene

GALM

Gene Name

galactose mutarotase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138801.2	269	Missense Mutation	AAG,AGG	K6R	NP_620156.1
XM_011532540.1	269	Missense Mutation	AAG,AGG	K6R	XP_011530842.1

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