Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGATGGTGTTGGCCTGGTTAAAGC[A/G]CTCAAACTGGCGCTCAAGTGGGTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 918 | Missense Mutation | CGC,TGC | R,C 228 | NP_001034800.1 | |
NM_001039712.1 | 918 | Missense Mutation | CGC,TGC | R,C 228 | NP_001034801.1 | |
NM_032998.2 | 918 | Missense Mutation | CGC,TGC | R,C 228 | NP_127491.1 | |
XM_005245597.3 | 918 | Missense Mutation | CGC,TGC | R,C 258 | XP_005245654.1 | |
XM_005245598.4 | 918 | Missense Mutation | CGC,TGC | R,C 258 | XP_005245655.1 | |
XM_005245599.2 | 918 | Missense Mutation | CGC,TGC | R,C 258 | XP_005245656.1 | |
XM_005245600.2 | 918 | Missense Mutation | CGC,TGC | R,C 258 | XP_005245657.1 | |
XM_017002802.1 | 918 | Missense Mutation | CGC,TGC | R,C 228 | 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 | 918 | Intron | NP_001172021.1 | |||
NM_001185093.1 | 918 | Intron | NP_001172022.1 | |||
NM_001185094.1 | 918 | Intron | NP_001172023.1 | |||
NM_005600.2 | 918 | Intron | NP_005591.1 | |||
XM_005245214.2 | 918 | Intron | XP_005245271.1 | |||
XM_005245215.4 | 918 | Intron | XP_005245272.1 | |||
XM_005245216.3 | 918 | Intron | XP_005245273.1 | |||
XM_006711341.3 | 918 | Intron | XP_006711404.1 | |||
XM_017001371.1 | 918 | Intron | XP_016856860.1 |
PFDN2 - prefoldin subunit 2 | ||||||
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There are no transcripts associated with this gene. |