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GCTGGAGCCCTGCGGGTAGCTGGGC[A/G]TGATCCCTTGGCGATACCACAGGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608606 MIM: 610989 MIM: 614781 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BHLHA15 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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BHLHA15 - basic helix-loop-helix family member a15 | ||||||
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There are no transcripts associated with this gene. |
LMTK2 - lemur tyrosine kinase 2 | ||||||
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There are no transcripts associated with this gene. |
TECPR1 - tectonin beta-propeller repeat containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015395.2 | 3485 | Missense Mutation | ACG,ATG | T,M 1062 | NP_056210.1 | |
XM_005250253.3 | 3485 | Missense Mutation | ACG,ATG | T,M 1062 | XP_005250310.1 | |
XM_017011937.1 | 3485 | Missense Mutation | ACG,ATG | T,M 1028 | XP_016867426.1 | |
XM_017011938.1 | 3485 | Intron | XP_016867427.1 |