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TTTGTCTCCAGCGGTGTGTCAAAAC[A/G]GCTGATGACCTCCTTCCCCCAGGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609458 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAN2B1 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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MAN2B1 - mannosidase alpha class 2B member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000528.3 | 1849 | Missense Mutation | CGT,TGT | R,C 732 | NP_000519.2 | |
NM_001173498.1 | 1849 | Missense Mutation | CGT,TGT | R,C 731 | NP_001166969.1 | |
XM_005259913.1 | 1849 | Missense Mutation | CGT,TGT | R,C 733 | XP_005259970.1 | |
XM_017026818.1 | 1849 | Missense Mutation | CGT,TGT | R,C 365 | XP_016882307.1 |