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TTGGCTGCGCTTCCTTGTTTGTGAG[C/T]TAGAATTAGGTAGCAAACAGCTCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 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 | |||
---|---|---|---|---|---|
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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EFCAB7 - EF-hand calcium binding domain 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032437.3 | 325 | UTR 5 | NP_115813.2 | |||
XM_005271274.3 | 325 | UTR 5 | XP_005271331.1 | |||
XM_006710976.3 | 325 | Intron | XP_006711039.1 | |||
XM_006710977.1 | 325 | Intron | XP_006711040.1 | |||
XM_011542301.2 | 325 | Intron | XP_011540603.1 | |||
XM_017002548.1 | 325 | Intron | XP_016858037.1 |
ITGB3BP - integrin subunit beta 3 binding protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206739.1 | 325 | Intron | NP_001193668.1 | |||
NM_014288.4 | 325 | Intron | NP_055103.3 | |||
XM_006710514.3 | 325 | Intron | XP_006710577.3 | |||
XM_006710515.3 | 325 | Intron | XP_006710578.3 | |||
XM_017000853.1 | 325 | Intron | XP_016856342.1 | |||
XM_017000854.1 | 325 | Intron | XP_016856343.1 | |||
XM_017000855.1 | 325 | Intron | XP_016856344.1 | |||
XM_017000856.1 | 325 | Intron | XP_016856345.1 | |||
XM_017000857.1 | 325 | Intron | XP_016856346.1 |