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GAGGCAGGCGTCGAAGAGTACGGCC[C/T]TGAAGAAGACGGCGGGGAGGAGTCG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608537 | |||||||||||||||||||||||
Literature Links: |
VHL 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 - 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 |
VHL - von Hippel-Lindau tumor suppressor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000551.3 | 287 | Missense Mutation | CCT,CTT | P,L 25 | NP_000542.1 | |
NM_198156.2 | 287 | Missense Mutation | CCT,CTT | P,L 25 | NP_937799.1 |