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GAGTCCTCGAACAAAGAAATTTCCA[C/G]TAACTGAAGAGGAAATATTTTATAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 605494 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EFCAB7 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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EFCAB7 - EF-hand calcium binding domain 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032437.3 | 335 | Missense Mutation | CTA,GTA | L,V 29 | NP_115813.2 | |
XM_005271274.3 | 335 | Missense Mutation | CTA,GTA | L,V 29 | XP_005271331.1 | |
XM_006710976.3 | 335 | Missense Mutation | CTA,GTA | L,V 42 | XP_006711039.1 | |
XM_006710977.1 | 335 | Missense Mutation | CTA,GTA | L,V 29 | XP_006711040.1 | |
XM_011542301.2 | 335 | Missense Mutation | CTA,GTA | L,V 42 | XP_011540603.1 | |
XM_017002548.1 | 335 | Missense Mutation | CTA,GTA | L,V 42 | XP_016858037.1 |
ITGB3BP - integrin subunit beta 3 binding protein | ||||||
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There are no transcripts associated with this gene. |