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TAAACAGCTGGGTGTGTTGCCAAGC[C/G]ACATCACCATCTCCTCTGCTTAATT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 610661 | |||||||||||||||||||||||
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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145293.1 | 1805 | Silent Mutation | GTC,GTG | V,V 607 | NP_001138765.1 | |
NM_001145294.1 | 1805 | Silent Mutation | GTC,GTG | V,V 583 | NP_001138766.1 | |
NM_001145295.1 | 1805 | UTR 3 | NP_001138767.1 | |||
NM_018297.3 | 1805 | Silent Mutation | GTC,GTG | V,V 625 | NP_060767.2 | |
XM_005265316.1 | 1805 | Silent Mutation | GTC,GTG | V,V 570 | XP_005265373.1 | |
XM_005265317.1 | 1805 | UTR 3 | XP_005265374.1 | |||
XM_011533944.1 | 1805 | Silent Mutation | GTC,GTG | V,V 548 | XP_011532246.1 | |
XM_011533945.2 | 1805 | Intron | XP_011532247.1 | |||
XM_017006839.1 | 1805 | Intron | XP_016862328.1 |