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GGAACCTAACCTCTGTGCCCCTTCA[A/T]TGTGGAACATGTGGTCATCAAAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610526 MIM: 616796 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NT5C1B 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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NT5C1B - 5'-nucleotidase, cytosolic IB | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002006.2 | 1830 | Missense Mutation | AAT,ATT | N,I 590 | NP_001002006.1 | |
NM_001199086.1 | 1830 | Missense Mutation | AAT,ATT | N,I 573 | NP_001186015.1 | |
NM_001199087.1 | 1830 | Missense Mutation | AAT,ATT | N,I 607 | NP_001186016.1 | |
NM_001199088.1 | 1830 | Missense Mutation | AAT,ATT | N,I 592 | NP_001186017.1 | |
NM_033253.3 | 1830 | Missense Mutation | AAT,ATT | N,I 530 | NP_150278.2 |
NT5C1B-RDH14 - NT5C1B-RDH14 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199103.1 | 1830 | Intron | NP_001186032.1 | |||
NM_001199104.1 | 1830 | Missense Mutation | AAT,ATT | N,I 590 | NP_001186033.1 |
RDH14 - retinol dehydrogenase 14 (all-trans/9-cis/11-cis) | ||||||
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There are no transcripts associated with this gene. |