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TTACAGGAAGACACATCTGTGTGAC[A/G]TAGAGATTCCAGGGCAGGGGCCTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
20 submissions
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Phenotype: |
MIM: 606841 MIM: 604618 MIM: 613466 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
NIT1 - nitrilase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001185092.1 | 605 | Missense Mutation | ATA,GTA | I,V 167 | NP_001172021.1 | |
NM_001185093.1 | 605 | Missense Mutation | ATA,GTA | I,V 152 | NP_001172022.1 | |
NM_001185094.1 | 605 | Missense Mutation | ATA,GTA | I,V 131 | NP_001172023.1 | |
NM_005600.2 | 605 | Missense Mutation | ATA,GTA | I,V 167 | NP_005591.1 | |
XM_005245214.2 | 605 | Missense Mutation | ATA,GTA | I,V 184 | XP_005245271.1 | |
XM_005245215.4 | 605 | Missense Mutation | ATA,GTA | I,V 184 | XP_005245272.1 | |
XM_005245216.3 | 605 | Missense Mutation | ATA,GTA | I,V 131 | XP_005245273.1 | |
XM_006711341.3 | 605 | Missense Mutation | ATA,GTA | I,V 184 | XP_006711404.1 | |
XM_017001371.1 | 605 | Missense Mutation | ATA,GTA | I,V 131 | XP_016856860.1 |
PFDN2 - prefoldin subunit 2 | ||||||
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There are no transcripts associated with this gene. |