Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTCTGGACTCAAGATGGGTGCCC[A/C]CCAGCATTCCCCACATTCAGTGCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 104160 MIM: 611349 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GANAB PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GANAB - glucosidase II alpha subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278192.1 | 2451 | Intron | NP_001265121.1 | |||
NM_001278193.1 | 2451 | Intron | NP_001265122.1 | |||
NM_001278194.1 | 2451 | Intron | NP_001265123.1 | |||
NM_198334.2 | 2451 | Intron | NP_938148.1 | |||
NM_198335.3 | 2451 | Intron | NP_938149.2 | |||
XM_017017412.1 | 2451 | Intron | XP_016872901.1 | |||
XM_017017413.1 | 2451 | Intron | XP_016872902.1 | |||
XM_017017414.1 | 2451 | Intron | XP_016872903.1 |
INTS5 - integrator complex subunit 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030628.1 | 2451 | Missense Mutation | NP_085131.1 |