Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
45 submissions
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606841 MIM: 604618 MIM: 613466 MIM: 610554 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
DEDD PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU)
|
|||||||||
EAS
|
African American
|
YRI (Yoruba)
|
|||||||||
SAS
|
Japanese
|
JPT (Japanese)
|
|||||||||
AFR
|
Chinese
|
CHB (Han Chinese)
|
|||||||||
EUR
|
|||||||||||
AMR
|
DEDD - death effector domain containing | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039711.1 | 209 | Silent Mutation | CAC,CAT | H,H 21 | NP_001034800.1 | |
NM_001039712.1 | 209 | Silent Mutation | CAC,CAT | H,H 21 | NP_001034801.1 | |
NM_032998.2 | 209 | Silent Mutation | CAC,CAT | H,H 21 | NP_127491.1 | |
XM_005245597.3 | 209 | Silent Mutation | CAC,CAT | H,H 21 | XP_005245654.1 | |
XM_005245598.4 | 209 | Silent Mutation | CAC,CAT | H,H 21 | XP_005245655.1 | |
XM_005245599.2 | 209 | Silent Mutation | CAC,CAT | H,H 21 | XP_005245656.1 | |
XM_005245600.2 | 209 | Silent Mutation | CAC,CAT | H,H 21 | XP_005245657.1 | |
XM_017002802.1 | 209 | Silent Mutation | CAC,CAT | H,H 21 | XP_016858291.1 |
NIT1 - nitrilase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001185092.1 | 209 | UTR 3 | NP_001172021.1 | |||
NM_001185093.1 | 209 | Intron | NP_001172022.1 | |||
NM_001185094.1 | 209 | Intron | NP_001172023.1 | |||
NM_005600.2 | 209 | Intron | NP_005591.1 | |||
XM_005245214.2 | 209 | Intron | XP_005245271.1 | |||
XM_005245215.4 | 209 | Intron | XP_005245272.1 | |||
XM_005245216.3 | 209 | Intron | XP_005245273.1 | |||
XM_006711341.3 | 209 | UTR 3 | XP_006711404.1 | |||
XM_017001371.1 | 209 | UTR 3 | XP_016856860.1 |
PFDN2 - prefoldin subunit 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
UFC1 - ubiquitin-fold modifier conjugating enzyme 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
Set Membership: |
HapMap Validated |