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CCTCCCTGCAGCCGTTTAGGACTCA[C/T]AGGTTTTTTGCTGCTCCTGTCGGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611617 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
EFHD1 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 | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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EFHD1 - EF-hand domain family member D1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243252.1 | Intron | NP_001230181.1 | ||||
NM_001308395.1 | Intron | NP_001295324.1 | ||||
NM_025202.3 | Intron | NP_079478.1 | ||||
XM_011511924.2 | Intron | XP_011510226.1 |
Set Membership: |
HapMap |