Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAAAGCATCAACCTTCTCAAGACAA[C/T]GTATATTGCATATTTTACCTGAAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608072 MIM: 187680 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
NHLRC1 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
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
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Japanese
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CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
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JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1 | ||||||
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There are no transcripts associated with this gene. |
TPMT - thiopurine S-methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000367.3 | 1115 | Missense Mutation | CAT,CGT | H,R 215 | NP_000358.1 | |
XM_011514839.2 | 1115 | Missense Mutation | CAT,CGT | H,R 200 | XP_011513141.1 | |
XM_017011241.1 | 1115 | Missense Mutation | CAT,CGT | H,R 215 | XP_016866730.1 |
Set Membership: |
DME Validated Inventoried |