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TAGCAGCCCTGTTCCAGCCTCATCA[C/T]AGCTTTTGAACGTGCGCCGCATTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
EFCAB6 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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EFCAB6 - EF-hand calcium binding domain 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022785.3 | 4349 | Missense Mutation | TAT,TGT | Y,C 1446 | NP_073622.2 | |
NM_198856.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1294 | NP_942153.1 | |
XM_005261704.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1446 | XP_005261761.1 | |
XM_005261705.3 | 4349 | Missense Mutation | TAT,TGT | Y,C 1340 | XP_005261762.1 | |
XM_011530316.1 | 4349 | Missense Mutation | TAT,TGT | Y,C 1472 | XP_011528618.1 | |
XM_011530317.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1446 | XP_011528619.1 | |
XM_011530318.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1420 | XP_011528620.1 | |
XM_011530319.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1340 | XP_011528621.1 | |
XM_011530320.2 | 4349 | Missense Mutation | ATG,GTG | M,V 1471 | XP_011528622.1 | |
XM_011530321.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1294 | XP_011528623.1 | |
XM_011530322.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1294 | XP_011528624.1 | |
XM_011530323.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1292 | XP_011528625.1 | |
XM_011530325.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1198 | XP_011528627.1 | |
XM_011530326.2 | 4349 | Intron | XP_011528628.1 | |||
XM_011530327.2 | 4349 | Missense Mutation | TAT,TGT | Y,C 1138 | XP_011528629.1 | |
XM_011530328.2 | 4349 | Intron | XP_011528630.1 | |||
XM_011530329.1 | 4349 | Missense Mutation | TAT,TGT | Y,C 744 | XP_011528631.1 | |
XM_011530330.2 | 4349 | Intron | XP_011528632.1 | |||
XM_017028910.1 | 4349 | Missense Mutation | TAT,TGT | Y,C 1472 | XP_016884399.1 | |
XM_017028911.1 | 4349 | Missense Mutation | TAT,TGT | Y,C 1472 | XP_016884400.1 | |
XM_017028912.1 | 4349 | Missense Mutation | TAT,TGT | Y,C 1288 | XP_016884401.1 |
EFCAB6-AS1 - EFCAB6 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |