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ACCACTGGGTCTGAAGAACTTCCCC[A/T]TGGCACGGACCTGCGGCAGCTCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603940 MIM: 600050 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EHBP1L1 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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EHBP1L1 - EH domain binding protein 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099409.1 | 1283 | Intron | NP_001092879.1 | |||
XM_005273867.3 | 1283 | Intron | XP_005273924.1 | |||
XM_005273868.3 | 1283 | Intron | XP_005273925.1 | |||
XM_005273869.3 | 1283 | Intron | XP_005273926.1 | |||
XM_005273870.3 | 1283 | Intron | XP_005273927.1 | |||
XM_006718486.3 | 1283 | Intron | XP_006718549.1 | |||
XM_006718487.3 | 1283 | Intron | XP_006718550.1 | |||
XM_011544886.2 | 1283 | Intron | XP_011543188.1 | |||
XM_017017467.1 | 1283 | Intron | XP_016872956.1 | |||
XM_017017468.1 | 1283 | Intron | XP_016872957.1 | |||
XM_017017469.1 | 1283 | Intron | XP_016872958.1 |
KCNK7 - potassium two pore domain channel subfamily K member 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005714.1 | 1283 | UTR 3 | NP_005705.1 | |||
NM_033347.1 | 1283 | Missense Mutation | AAG,ATG | K,M 265 | NP_203133.1 | |
NM_033348.1 | 1283 | UTR 3 | NP_203134.1 | |||
NM_033455.1 | 1283 | UTR 3 | NP_258416.1 |
MAP3K11 - mitogen-activated protein kinase kinase kinase 11 | ||||||
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There are no transcripts associated with this gene. |