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CATTCCTGTAGCAGTGACCAAGCCC[A/G]ATCTGGGCCCATGGCCTTAGCTAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607521 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPS5 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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HPS5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007216.3 | 3163 | Silent Mutation | NP_009147.3 | |||
NM_181507.1 | 3163 | Silent Mutation | NP_852608.1 | |||
NM_181508.1 | 3163 | Silent Mutation | NP_852609.1 | |||
XM_011519862.1 | 3163 | Missense Mutation | XP_011518164.1 | |||
XM_011519863.1 | 3163 | Missense Mutation | XP_011518165.1 | |||
XM_011519864.1 | 3163 | Silent Mutation | XP_011518166.1 | |||
XM_011519865.1 | 3163 | Missense Mutation | XP_011518167.1 | |||
XM_011519866.1 | 3163 | Missense Mutation | XP_011518168.1 | |||
XM_011519867.1 | 3163 | Missense Mutation | XP_011518169.1 | |||
XM_011519868.2 | 3163 | Missense Mutation | XP_011518170.1 | |||
XM_017017149.1 | 3163 | Missense Mutation | XP_016872638.1 | |||
XM_017017150.1 | 3163 | Missense Mutation | XP_016872639.1 | |||
XM_017017151.1 | 3163 | Missense Mutation | XP_016872640.1 | |||
XM_017017152.1 | 3163 | Missense Mutation | XP_016872641.1 | |||
XM_017017153.1 | 3163 | Missense Mutation | XP_016872642.1 | |||
XM_017017154.1 | 3163 | Missense Mutation | XP_016872643.1 |