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TCCAGCCCCTGTGACCGTGGGTGGC[A/G]CCGGGTTGGTCGGACGGTTGGCCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300688 MIM: 300775 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCORL1 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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BCORL1 - BCL6 corepressor-like 1 | ||||||
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There are no transcripts associated with this gene. |
ELF4 - E74 like ETS transcription factor 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127197.1 | 2220 | Missense Mutation | GCG,GTG | A,V 500 | NP_001120669.1 | |
NM_001421.3 | 2220 | Missense Mutation | GCG,GTG | A,V 500 | NP_001412.1 | |
XM_005262389.3 | 2220 | Missense Mutation | GCG,GTG | A,V 500 | XP_005262446.1 | |
XM_011531307.2 | 2220 | Missense Mutation | GCG,GTG | A,V 432 | XP_011529609.1 | |
XM_011531308.2 | 2220 | Missense Mutation | GCG,GTG | A,V 423 | XP_011529610.1 |