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TTGACACCTGATATCTTGCCATTGA[A/T]GGGCGACAGAGTGTAGAAGAGCTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605892 MIM: 605916 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EHD4 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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EHD4 - EH domain containing 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139265.3 | 1444 | Missense Mutation | ATC,TTC | I,F 461 | NP_644670.1 | |
XM_017022100.1 | 1444 | Missense Mutation | ATC,TTC | I,F 373 | XP_016877589.1 |
LOC105370792 - uncharacterized LOC105370792 | ||||||
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There are no transcripts associated with this gene. |
SPTBN5 - spectrin beta, non-erythrocytic 5 | ||||||
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There are no transcripts associated with this gene. |