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AGTGCATTGGGAGACAGTAAGTGGA[A/G]GGAGCCGAAAGAGAAGGGGAAGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602953 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HEY1 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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HEY1 - hes related family bHLH transcription factor with YRPW motif 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040708.1 | 753 | Missense Mutation | CTC,TTC | L,F 275 | NP_001035798.1 | |
NM_001282851.1 | 753 | Missense Mutation | CTC,TTC | L,F 181 | NP_001269780.1 | |
NM_012258.3 | 753 | Missense Mutation | CTC,TTC | L,F 271 | NP_036390.3 |
LINC01607 - long intergenic non-protein coding RNA 1607 | ||||||
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There are no transcripts associated with this gene. |
LOC101927040 - uncharacterized LOC101927040 | ||||||
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There are no transcripts associated with this gene. |