Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGAAGCTTCCATTCCTCCACGGTCT[C/T]TGGGATCCAACCTAAACACACACAG
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 |
---|---|---|
Global - Not Available | 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 |
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 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | NP_009147.3 | |
NM_181507.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | NP_852608.1 | |
NM_181508.1 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | NP_852609.1 | |
XM_011519862.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | XP_011518164.1 | |
XM_011519863.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | XP_011518165.1 | |
XM_011519864.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | XP_011518166.1 | |
XM_011519865.1 | 3004 | Missense Mutation | AAG,GAG | K,E 987 | XP_011518167.1 | |
XM_011519866.1 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | XP_011518168.1 | |
XM_011519867.1 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | XP_011518169.1 | |
XM_011519868.2 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | XP_011518170.1 | |
XM_017017149.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | XP_016872638.1 | |
XM_017017150.1 | 3004 | Missense Mutation | AAG,GAG | K,E 1024 | XP_016872639.1 | |
XM_017017151.1 | 3004 | Missense Mutation | AAG,GAG | K,E 987 | XP_016872640.1 | |
XM_017017152.1 | 3004 | Missense Mutation | AAG,GAG | K,E 987 | XP_016872641.1 | |
XM_017017153.1 | 3004 | Missense Mutation | AAG,GAG | K,E 987 | XP_016872642.1 | |
XM_017017154.1 | 3004 | Missense Mutation | AAG,GAG | K,E 910 | XP_016872643.1 |