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CGTCTGCAGACGGCAACGGGGGCCT[C/T]TACTGCGCGCTGGAGGACCACAAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604346 MIM: 612057 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAN1B1 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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MAN1B1 - mannosidase alpha class 1B member 1 | ||||||
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There are no transcripts associated with this gene. |
MAN1B1-AS1 - MAN1B1 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |
SAPCD2 - suppressor APC domain containing 2 | ||||||
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There are no transcripts associated with this gene. |
UAP1L1 - UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207309.2 | 745 | Silent Mutation | CTC,CTT | L,L 229 | NP_997192.2 | |
XM_006717317.3 | 745 | Silent Mutation | CTC,CTT | L,L 229 | XP_006717380.1 | |
XM_011519182.2 | 745 | Silent Mutation | CTC,CTT | L,L 62 | XP_011517484.1 |