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CCTCCCCTGGCTTCCGTGTTATCTC[C/G]TCTCCACGCCGGGAAGGGAGAGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604982 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPS1 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 - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PYROXD2 - pyridine nucleotide-disulphide oxidoreductase domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032709.2 | 111 | Missense Mutation | CGA,GGA | R,G 22 | NP_116098.2 | |
XM_011540293.2 | 111 | UTR 5 | XP_011538595.1 | |||
XM_011540301.2 | 111 | Intron | XP_011538603.1 | |||
XM_017016835.1 | 111 | Nonsense Mutation | CGA,GGA | R,G 22 | XP_016872324.1 | |
XM_017016836.1 | 111 | Nonsense Mutation | CGA,GGA | R,G 22 | XP_016872325.1 | |
XM_017016837.1 | 111 | Nonsense Mutation | CGA,GGA | R,G 22 | XP_016872326.1 | |
XM_017016838.1 | 111 | Intron | XP_016872327.1 | |||
XM_017016839.1 | 111 | Intron | XP_016872328.1 | |||
XM_017016840.1 | 111 | Intron | XP_016872329.1 | |||
XM_017016841.1 | 111 | Intron | XP_016872330.1 |