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AGAAGCCAAAATGGGACACAGTAAA[C/T]AGATTCGAATTTTACTTCTGAACGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 610860 | ||||||||||||||||||||
Literature Links: |
AGL PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AGL - amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000028.2 | 84 | Nonsense Mutation | CAG,TAG | Q,* 6 | NP_000019.2 | |
NM_000642.2 | 84 | Nonsense Mutation | CAG,TAG | Q,* 6 | NP_000633.2 | |
NM_000643.2 | 84 | Nonsense Mutation | CAG,TAG | Q,* 6 | NP_000634.2 | |
NM_000644.2 | 84 | Nonsense Mutation | CAG,TAG | Q,* 6 | 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 | Q,* 6 | XP_005270614.1 | |
XM_017000501.1 | 84 | Intron | XP_016855990.1 |