Product Details

SNP ID

rs113994126

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:99851058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGCCAAAATGGGACACAGTAAA[C/T]AGATTCGAATTTTACTTCTGAACGA

Phenotype

MIM: 610860

Polymorphism

C/T, 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	84	Nonsense Mutation	CAG,TAG	Q6*	NP_000019.2
NM_000642.2	84	Nonsense Mutation	CAG,TAG	Q6*	NP_000633.2
NM_000643.2	84	Nonsense Mutation	CAG,TAG	Q6*	NP_000634.2
NM_000644.2	84	Nonsense Mutation	CAG,TAG	Q6*	NP_000635.2
NM_000645.2	84	Intron			NP_000636.2
NM_000646.2	84	UTR 5			NP_000637.2
XM_005270557.2	84	Nonsense Mutation	CAG,TAG	Q6*	XP_005270614.1
XM_017000501.1	84	Intron			XP_016855990.1

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