Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTCTCGATGATGCTCCTCAGCTCG[C/T]GGACCTGTGTCCTTAGCTCCTCCAC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1947 | Missense Mutation | CAC,CGC | H,R 580 | NP_001019837.1 | |
NM_001184960.1 | 1947 | Missense Mutation | CAC,CGC | H,R 379 | NP_001171889.1 | |
NM_031892.2 | 1947 | Missense Mutation | CAC,CGC | H,R 617 | NP_114098.1 | |
XM_005274494.2 | 1947 | Missense Mutation | CAC,CGC | H,R 642 | XP_005274551.1 | |
XM_011545498.2 | 1947 | Missense Mutation | CAC,CGC | H,R 661 | XP_011543800.1 | |
XM_011545499.2 | 1947 | Missense Mutation | CAC,CGC | H,R 624 | XP_011543801.1 | |
XM_011545500.2 | 1947 | Missense Mutation | CAC,CGC | H,R 618 | XP_011543802.1 | |
XM_011545502.2 | 1947 | Missense Mutation | CAC,CGC | H,R 396 | XP_011543804.1 | |
XM_011545503.2 | 1947 | Intron | XP_011543805.1 | |||
XM_017029459.1 | 1947 | Missense Mutation | CAC,CGC | H,R 630 | XP_016884948.1 | |
XM_017029460.1 | 1947 | Missense Mutation | CAC,CGC | H,R 620 | XP_016884949.1 | |
XM_017029461.1 | 1947 | Missense Mutation | CAC,CGC | H,R 601 | XP_016884950.1 | |
XM_017029462.1 | 1947 | Missense Mutation | CAC,CGC | H,R 599 | XP_016884951.1 | |
XM_017029463.1 | 1947 | Missense Mutation | CAC,CGC | H,R 586 | XP_016884952.1 | |
XM_017029464.1 | 1947 | Missense Mutation | CAC,CGC | H,R 577 | XP_016884953.1 | |
XM_017029465.1 | 1947 | Missense Mutation | CAC,CGC | H,R 576 | XP_016884954.1 | |
XM_017029466.1 | 1947 | Missense Mutation | CAC,CGC | H,R 574 | XP_016884955.1 | |
XM_017029467.1 | 1947 | Missense Mutation | CAC,CGC | H,R 558 | XP_016884956.1 | |
XM_017029468.1 | 1947 | Missense Mutation | CAC,CGC | H,R 533 | XP_016884957.1 | |
XM_017029469.1 | 1947 | Missense Mutation | CAC,CGC | H,R 356 | XP_016884958.1 | |
XM_017029470.1 | 1947 | Missense Mutation | CAC,CGC | H,R 336 | XP_016884959.1 |