Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610661 MIM: 610324 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
NGLY1 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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NGLY1 - N-glycanase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145293.1 | 4969 | Intron | NP_001138765.1 | |||
NM_001145294.1 | 4969 | Intron | NP_001138766.1 | |||
NM_001145295.1 | 4969 | Intron | NP_001138767.1 | |||
NM_018297.3 | 4969 | Intron | NP_060767.2 | |||
XM_005265316.1 | 4969 | Intron | XP_005265373.1 | |||
XM_005265317.1 | 4969 | Intron | XP_005265374.1 | |||
XM_011533944.1 | 4969 | Intron | XP_011532246.1 | |||
XM_011533945.2 | 4969 | Intron | XP_011532247.1 | |||
XM_017006839.1 | 4969 | Intron | XP_016862328.1 |
OXSM - 3-oxoacyl-ACP synthase, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145391.1 | 4969 | Intron | NP_001138863.1 | |||
NM_017897.2 | 4969 | Intron | NP_060367.1 | |||
XM_006713216.3 | 4969 | UTR 5 | XP_006713279.1 | |||
XM_006713217.3 | 4969 | UTR 5 | XP_006713280.1 | |||
XM_017006713.1 | 4969 | UTR 5 | XP_016862202.1 | |||
XM_017006714.1 | 4969 | UTR 5 | XP_016862203.1 |
Set Membership: |
Validated |