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CGGACCTGTGTCCTTAGCTCCTCCA[C/T]GGCCGCCTGGCTGCTGGCCGCAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300374 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH3KBP1 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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SH3KBP1 - SH3 domain containing kinase binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001024666.2 | 1922 | Missense Mutation | ATG,GTG | M,V 572 | NP_001019837.1 | |
NM_001184960.1 | 1922 | Missense Mutation | ATG,GTG | M,V 371 | NP_001171889.1 | |
NM_031892.2 | 1922 | Missense Mutation | ATG,GTG | M,V 609 | NP_114098.1 | |
XM_005274494.2 | 1922 | Missense Mutation | ATG,GTG | M,V 634 | XP_005274551.1 | |
XM_011545498.2 | 1922 | Missense Mutation | ATG,GTG | M,V 653 | XP_011543800.1 | |
XM_011545499.2 | 1922 | Missense Mutation | ATG,GTG | M,V 616 | XP_011543801.1 | |
XM_011545500.2 | 1922 | Missense Mutation | ATG,GTG | M,V 610 | XP_011543802.1 | |
XM_011545502.2 | 1922 | Missense Mutation | ATG,GTG | M,V 388 | XP_011543804.1 | |
XM_011545503.2 | 1922 | Intron | XP_011543805.1 | |||
XM_017029459.1 | 1922 | Missense Mutation | ATG,GTG | M,V 622 | XP_016884948.1 | |
XM_017029460.1 | 1922 | Missense Mutation | ATG,GTG | M,V 612 | XP_016884949.1 | |
XM_017029461.1 | 1922 | Missense Mutation | ATG,GTG | M,V 593 | XP_016884950.1 | |
XM_017029462.1 | 1922 | Missense Mutation | ATG,GTG | M,V 591 | XP_016884951.1 | |
XM_017029463.1 | 1922 | Missense Mutation | ATG,GTG | M,V 578 | XP_016884952.1 | |
XM_017029464.1 | 1922 | Missense Mutation | ATG,GTG | M,V 569 | XP_016884953.1 | |
XM_017029465.1 | 1922 | Missense Mutation | ATG,GTG | M,V 568 | XP_016884954.1 | |
XM_017029466.1 | 1922 | Missense Mutation | ATG,GTG | M,V 566 | XP_016884955.1 | |
XM_017029467.1 | 1922 | Missense Mutation | ATG,GTG | M,V 550 | XP_016884956.1 | |
XM_017029468.1 | 1922 | Missense Mutation | ATG,GTG | M,V 525 | XP_016884957.1 | |
XM_017029469.1 | 1922 | Missense Mutation | ATG,GTG | M,V 348 | XP_016884958.1 | |
XM_017029470.1 | 1922 | Missense Mutation | ATG,GTG | M,V 328 | XP_016884959.1 |