Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCCGCGCCCATACCTGGCATGCT[C/G]GAAGTACTCCTTGTGATGGTTGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608511 | ||||||||||||||||||||
Literature Links: |
PHYHIP 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 |
PHYHIP - phytanoyl-CoA 2-hydroxylase interacting protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099335.1 | 1285 | Missense Mutation | CAG,GAG | Q,E 150 | NP_001092805.1 | |
NM_014759.3 | 1285 | Missense Mutation | CAG,GAG | Q,E 150 | NP_055574.3 | |
XM_006716416.1 | 1285 | Missense Mutation | CAG,GAG | Q,E 150 | XP_006716479.1 | |
XM_017014102.1 | 1285 | Missense Mutation | CAG,GAG | Q,E 17 | XP_016869591.1 |