Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGAGTGCCCACGATGTCAAACATG[C/T]GGTGCAGGCTGTACAGCCCATGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
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Phenotype: |
MIM: 606841 MIM: 604618 MIM: 613466 MIM: 610554 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DEDD 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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DEDD - death effector domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039711.1 | 229 | Missense Mutation | CAC,CGC | H,R 28 | NP_001034800.1 | |
NM_001039712.1 | 229 | Missense Mutation | CAC,CGC | H,R 28 | NP_001034801.1 | |
NM_032998.2 | 229 | Missense Mutation | CAC,CGC | H,R 28 | NP_127491.1 | |
XM_005245597.3 | 229 | Missense Mutation | CAC,CGC | H,R 28 | XP_005245654.1 | |
XM_005245598.4 | 229 | Missense Mutation | CAC,CGC | H,R 28 | XP_005245655.1 | |
XM_005245599.2 | 229 | Missense Mutation | CAC,CGC | H,R 28 | XP_005245656.1 | |
XM_005245600.2 | 229 | Missense Mutation | CAC,CGC | H,R 28 | XP_005245657.1 | |
XM_017002802.1 | 229 | Missense Mutation | CAC,CGC | H,R 28 | XP_016858291.1 |
NIT1 - nitrilase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001185092.1 | 229 | UTR 3 | NP_001172021.1 | |||
NM_001185093.1 | 229 | Intron | NP_001172022.1 | |||
NM_001185094.1 | 229 | Intron | NP_001172023.1 | |||
NM_005600.2 | 229 | Intron | NP_005591.1 | |||
XM_005245214.2 | 229 | Intron | XP_005245271.1 | |||
XM_005245215.4 | 229 | Intron | XP_005245272.1 | |||
XM_005245216.3 | 229 | Intron | XP_005245273.1 | |||
XM_006711341.3 | 229 | UTR 3 | XP_006711404.1 | |||
XM_017001371.1 | 229 | UTR 3 | XP_016856860.1 |
PFDN2 - prefoldin subunit 2 | ||||||
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There are no transcripts associated with this gene. |
UFC1 - ubiquitin-fold modifier conjugating enzyme 1 | ||||||
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There are no transcripts associated with this gene. |