Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATACTGATCTGACAGGAAGGGGACA[C/T]AGAATGCCCGCAGCAGCTTTGAAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606941 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALG9 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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ALG9 - ALG9, alpha-1,2-mannosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077690.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 580 | NP_001071158.1 | |
NM_001077691.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 416 | NP_001071159.1 | |
NM_001077692.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 409 | NP_001071160.1 | |
NM_024740.2 | 2135 | Missense Mutation | TAT,TGT | Y,C 587 | NP_079016.2 | |
XM_005277723.4 | 2135 | Missense Mutation | TAT,TGT | Y,C 587 | XP_005277780.1 | |
XM_005277724.4 | 2135 | Missense Mutation | TAT,TGT | Y,C 580 | XP_005277781.1 | |
XM_006718913.2 | 2135 | UTR 3 | XP_006718976.1 | |||
XM_011542992.1 | 2135 | UTR 3 | XP_011541294.1 | |||
XM_017018313.1 | 2135 | UTR 3 | XP_016873802.1 | |||
XM_017018314.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 546 | XP_016873803.1 | |
XM_017018315.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 539 | XP_016873804.1 | |
XM_017018316.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 416 | XP_016873805.1 | |
XM_017018317.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 409 | XP_016873806.1 | |
XM_017018318.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 409 | XP_016873807.1 | |
XM_017018319.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 416 | XP_016873808.1 | |
XM_017018320.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 416 | XP_016873809.1 | |
XM_017018321.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 409 | XP_016873810.1 | |
XM_017018322.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 409 | XP_016873811.1 | |
XM_017018323.1 | 2135 | UTR 3 | XP_016873812.1 | |||
XM_017018324.1 | 2135 | UTR 3 | XP_016873813.1 | |||
XM_017018325.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 384 | XP_016873814.1 | |
XM_017018326.1 | 2135 | Missense Mutation | TAT,TGT | Y,C 368 | XP_016873815.1 |