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GAAGTTTTCTCTGTTCCACTTTAGC[C/T]CGGAAGTTATGAGATCCGACACTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605825 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HEBP2 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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HEBP2 - heme binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001326380.1 | 374 | Missense Mutation | CCC,CTC | P,L 46 | NP_001313309.1 | |
NM_001326381.1 | 374 | Missense Mutation | CCC,CTC | P,L 35 | NP_001313310.1 | |
NM_014320.2 | 374 | Missense Mutation | CCC,CTC | P,L 35 | NP_055135.1 | |
XM_017010631.1 | 374 | Missense Mutation | CCC,CTC | P,L 35 | XP_016866120.1 |