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GGAGAACCCGCTGAAGCTCCCCCTT[C/T]ACCACGAAGACGGTGAGCGCTGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142385 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HLF 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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HLF - HLF, PAR bZIP transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002126.4 | 608 | Missense Mutation | CAC,TAC | H,Y 35 | NP_002117.1 | |
XM_005257269.2 | 608 | Missense Mutation | CAC,TAC | H,Y 35 | XP_005257326.1 | |
XM_011524705.1 | 608 | Intron | XP_011523007.1 | |||
XM_017024556.1 | 608 | Intron | XP_016880045.1 |