Product Details

SNP ID
rs201144916
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:142005613 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTGTGTTGTTTATCATCAGTA[C/T]TGTTCTAATTGTGCTTTTAGCCAAA
Phenotype
MIM: 154360
Polymorphism
C/T, Transition 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_004668.2 270 Missense Mutation ACT,ATT T28I NP_004659.2
XM_006716168.2 270 Missense Mutation ACT,ATT T28I XP_006716231.1
XM_011516670.2 270 Missense Mutation ACT,ATT T28I XP_011514972.1
XM_011516671.2 270 Missense Mutation ACT,ATT T28I XP_011514973.1
XM_011516672.2 270 Missense Mutation ACT,ATT T28I XP_011514974.1
XM_011516673.2 270 Missense Mutation ACT,ATT T28I XP_011514975.1
XM_011516674.2 270 Missense Mutation ACT,ATT T28I XP_011514976.1
XM_017012772.1 270 Missense Mutation ACT,ATT T28I XP_016868261.1

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