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GGAGGGTAGGATAAGCAGAGCCCAT[A/T]TGAAGATTTTGGTGCAAGAAGACAC
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 | |||
---|---|---|---|---|---|
Global
|
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 |
NGLY1 - N-glycanase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145293.1 | 4733 | Intron | NP_001138765.1 | |||
NM_001145294.1 | 4733 | Intron | NP_001138766.1 | |||
NM_001145295.1 | 4733 | Intron | NP_001138767.1 | |||
NM_018297.3 | 4733 | Intron | NP_060767.2 | |||
XM_005265316.1 | 4733 | Intron | XP_005265373.1 | |||
XM_005265317.1 | 4733 | Intron | XP_005265374.1 | |||
XM_011533944.1 | 4733 | Intron | XP_011532246.1 | |||
XM_011533945.2 | 4733 | Intron | XP_011532247.1 | |||
XM_017006839.1 | 4733 | 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 | 4733 | Intron | NP_001138863.1 | |||
NM_017897.2 | 4733 | Intron | NP_060367.1 | |||
XM_006713216.3 | 4733 | UTR 5 | XP_006713279.1 | |||
XM_006713217.3 | 4733 | UTR 5 | XP_006713280.1 | |||
XM_017006713.1 | 4733 | UTR 5 | XP_016862202.1 | |||
XM_017006714.1 | 4733 | UTR 5 | XP_016862203.1 |