Product Details

SNP ID
rs114393922
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:99856138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCTAATTTTAGCAAACTGAGTC[A/G]TGGAATCTGACCTACTGTAGGCTCT
Phenotype
MIM: 610860
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AGL PubMed Links

Gene Details

Gene
AGL
Gene Name
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000028.2 Intron NP_000019.2
NM_000642.2 Intron NP_000633.2
NM_000643.2 Intron NP_000634.2
NM_000644.2 Intron NP_000635.2
NM_000645.2 Intron NP_000636.2
NM_000646.2 Intron NP_000637.2
XM_005270557.2 Intron XP_005270614.1
XM_017000501.1 Intron XP_016855990.1

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