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GCCATTTCTGAAGTTGGTGAAACTC[C/T]GCATTACATCCTGACTCAGAGATTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603443 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HCG25 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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HCG25 - HLA complex group 25 (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |
VPS52 - VPS52, GARP complex subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289174.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 595 | NP_001276103.1 | |
NM_001289175.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 537 | NP_001276104.1 | |
NM_001289176.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 473 | NP_001276105.1 | |
NM_022553.5 | 2154 | Missense Mutation | CAG,CGG | Q,R 662 | NP_072047.4 | |
XM_011514797.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 595 | XP_011513099.1 | |
XM_011514798.2 | 2154 | Missense Mutation | CAG,CGG | Q,R 595 | XP_011513100.1 | |
XM_011514799.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 595 | XP_011513101.1 | |
XM_017011177.1 | 2154 | Intron | XP_016866666.1 | |||
XM_017011178.1 | 2154 | Missense Mutation | CAG,CGG | Q,R 537 | XP_016866667.1 | |
XM_017011179.1 | 2154 | Intron | XP_016866668.1 |