Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606682 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPS4 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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HPS4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022081.5 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | NP_071364.4 | |
NM_152841.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 601 | NP_690054.1 | |
XM_006724353.3 | 2408 | Missense Mutation | CAT,TAT | H,Y 624 | XP_006724416.1 | |
XM_006724354.3 | 2408 | Missense Mutation | CAT,TAT | H,Y 624 | XP_006724417.1 | |
XM_006724360.3 | 2408 | Missense Mutation | CAT,TAT | H,Y 435 | XP_006724423.1 | |
XM_011530485.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528787.1 | |
XM_011530486.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528788.1 | |
XM_011530487.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528789.1 | |
XM_011530488.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528790.1 | |
XM_011530489.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528791.1 | |
XM_011530490.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 632 | XP_011528792.1 | |
XM_011530491.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528793.1 | |
XM_011530492.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 650 | XP_011528794.1 | |
XM_011530493.2 | 2408 | Intron | XP_011528795.1 | |||
XM_011530494.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 386 | XP_011528796.1 | |
XM_011530495.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 435 | XP_011528797.1 | |
XM_011530496.2 | 2408 | Missense Mutation | CAT,TAT | H,Y 386 | XP_011528798.1 | |
XM_017029042.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884531.1 | |
XM_017029043.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884532.1 | |
XM_017029044.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884533.1 | |
XM_017029045.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 632 | XP_016884534.1 | |
XM_017029046.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884535.1 | |
XM_017029047.1 | 2408 | Intron | XP_016884536.1 | |||
XM_017029048.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884537.1 | |
XM_017029049.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 606 | XP_016884538.1 | |
XM_017029050.1 | 2408 | Intron | XP_016884539.1 | |||
XM_017029051.1 | 2408 | Intron | XP_016884540.1 | |||
XM_017029052.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 470 | XP_016884541.1 | |
XM_017029053.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 465 | XP_016884542.1 | |
XM_017029054.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 452 | XP_016884543.1 | |
XM_017029055.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 386 | XP_016884544.1 | |
XM_017029056.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884545.1 | |
XM_017029057.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884546.1 | |
XM_017029058.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884547.1 | |
XM_017029059.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884548.1 | |
XM_017029060.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884549.1 | |
XM_017029061.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884550.1 | |
XM_017029062.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884551.1 | |
XM_017029063.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884552.1 | |
XM_017029064.1 | 2408 | Missense Mutation | CAT,TAT | H,Y 341 | XP_016884553.1 |