Product Details

SNP ID

rs182921681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142008559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCCTGGGACAACTGGTACCCCA[C/G]ATCCTGGAACAACTGGTACCACACA

Phenotype

MIM: 154360

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MGAM PubMed Links

Gene Details

Gene

MGAM

Gene Name

maltase-glucoamylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004668.2	368	Missense Mutation	CAT,GAT	H61D	NP_004659.2
XM_006716168.2	368	Missense Mutation	CAT,GAT	H61D	XP_006716231.1
XM_011516670.2	368	Missense Mutation	CAT,GAT	H61D	XP_011514972.1
XM_011516671.2	368	Missense Mutation	CAT,GAT	H61D	XP_011514973.1
XM_011516672.2	368	Missense Mutation	CAT,GAT	H61D	XP_011514974.1
XM_011516673.2	368	Missense Mutation	CAT,GAT	H61D	XP_011514975.1
XM_011516674.2	368	Missense Mutation	CAT,GAT	H61D	XP_011514976.1
XM_017012772.1	368	Missense Mutation	CAT,GAT	H61D	XP_016868261.1

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