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TGTGGAACAGGGGACCACCTCCACG[G/T]AGCGCTCCTTCATCACCTTCTTATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612960 MIM: 602698 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ESRP2 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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ESRP2 - epithelial splicing regulatory protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024939.2 | 1698 | Missense Mutation | TAC,TCC | Y,S 537 | NP_079215.2 | |
XM_005256153.4 | 1698 | Missense Mutation | TAC,TCC | Y,S 536 | XP_005256210.1 | |
XM_006721273.3 | 1698 | Missense Mutation | TAC,TCC | Y,S 411 | XP_006721336.1 | |
XM_011523338.2 | 1698 | Missense Mutation | TAC,TCC | Y,S 411 | XP_011521640.1 |
MIR6773 - microRNA 6773 | ||||||
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There are no transcripts associated with this gene. |
NFATC3 - nuclear factor of activated T-cells 3 | ||||||
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There are no transcripts associated with this gene. |