Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCTTGGCCTAGAGCAGGGGGATAC[C/G]GGAGGCCTCCCAGAGGCGCCGGGCC
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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HPS1 - HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000195.4 | 2277 | Missense Mutation | CGT,GGT | R,G 696 | NP_000186.2 | |
NM_001311345.1 | 2277 | Missense Mutation | CGT,GGT | R,G 372 | NP_001298274.1 | |
NM_001322476.1 | 2277 | Missense Mutation | CGT,GGT | R,G 696 | NP_001309405.1 | |
NM_001322477.1 | 2277 | Missense Mutation | CGT,GGT | R,G 696 | NP_001309406.1 | |
NM_001322478.1 | 2277 | Missense Mutation | CGT,GGT | R,G 663 | NP_001309407.1 | |
NM_001322479.1 | 2277 | Missense Mutation | CGT,GGT | R,G 663 | NP_001309408.1 | |
NM_001322480.1 | 2277 | Missense Mutation | CGT,GGT | R,G 609 | NP_001309409.1 | |
NM_001322481.1 | 2277 | Missense Mutation | CGT,GGT | R,G 609 | NP_001309410.1 | |
NM_001322482.1 | 2277 | Missense Mutation | CGT,GGT | R,G 576 | NP_001309411.1 | |
NM_001322483.1 | 2277 | Missense Mutation | CGT,GGT | R,G 573 | NP_001309412.1 | |
NM_001322484.1 | 2277 | Missense Mutation | CGT,GGT | R,G 573 | NP_001309413.1 | |
NM_001322485.1 | 2277 | Missense Mutation | CGT,GGT | R,G 540 | NP_001309414.1 | |
NM_001322487.1 | 2277 | Missense Mutation | CGT,GGT | R,G 372 | NP_001309416.1 | |
NM_001322489.1 | 2277 | Missense Mutation | CGT,GGT | R,G 372 | NP_001309418.1 | |
NM_001322490.1 | 2277 | Intron | NP_001309419.1 | |||
NM_001322491.1 | 2277 | Intron | NP_001309420.1 | |||
NM_001322492.1 | 2277 | Intron | NP_001309421.1 | |||
NM_182639.3 | 2277 | Intron | NP_872577.1 | |||
XM_005269757.4 | 2277 | Missense Mutation | CGT,GGT | R,G 696 | XP_005269814.1 | |
XM_017016170.1 | 2277 | Missense Mutation | CGT,GGT | R,G 576 | XP_016871659.1 | |
XM_017016171.1 | 2277 | Missense Mutation | CGT,GGT | R,G 540 | XP_016871660.1 | |
XM_017016172.1 | 2277 | Missense Mutation | CGT,GGT | R,G 372 | XP_016871661.1 | |
XM_017016173.1 | 2277 | Intron | XP_016871662.1 |
PYROXD2 - pyridine nucleotide-disulphide oxidoreductase domain 2 | ||||||
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There are no transcripts associated with this gene. |