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CCAAAGAATTTGGTTCTTCTTGAGG[A/T]CCCTGAAAATAGAAGCGAGTCATGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616349 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SORBS2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
SORBS2 - sorbin and SH3 domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145670.1 | 2946 | Missense Mutation | ACC,TCC | T,S 626 | NP_001139142.1 | |
NM_001145671.2 | 2946 | Missense Mutation | ACC,TCC | T,S 713 | NP_001139143.1 | |
NM_001145672.1 | 2946 | Missense Mutation | ACC,TCC | T,S 643 | NP_001139144.1 | |
NM_001145673.1 | 2946 | Missense Mutation | ACC,TCC | T,S 806 | NP_001139145.1 | |
NM_001145674.1 | 2946 | Missense Mutation | ACC,TCC | T,S 986 | NP_001139146.1 | |
NM_001145675.1 | 2946 | Missense Mutation | ACC,TCC | T,S 474 | NP_001139147.1 | |
NM_001270771.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1182 | NP_001257700.1 | |
NM_003603.6 | 2946 | Missense Mutation | ACC,TCC | T,S 648 | NP_003594.3 | |
NM_021069.4 | 2946 | Missense Mutation | ACC,TCC | T,S 1082 | NP_066547.1 | |
XM_005263307.1 | 2946 | Missense Mutation | ACC,TCC | T,S 941 | XP_005263364.1 | |
XM_005263308.1 | 2946 | Missense Mutation | ACC,TCC | T,S 727 | XP_005263365.1 | |
XM_005263310.1 | 2946 | Missense Mutation | ACC,TCC | T,S 679 | XP_005263367.1 | |
XM_005263311.1 | 2946 | Missense Mutation | ACC,TCC | T,S 674 | XP_005263368.1 | |
XM_005263312.1 | 2946 | Missense Mutation | ACC,TCC | T,S 673 | XP_005263369.1 | |
XM_005263313.1 | 2946 | Missense Mutation | ACC,TCC | T,S 640 | XP_005263370.1 | |
XM_006714388.1 | 2946 | Missense Mutation | ACC,TCC | T,S 704 | XP_006714451.1 | |
XM_006714390.1 | 2946 | Missense Mutation | ACC,TCC | T,S 643 | XP_006714453.1 | |
XM_017008738.1 | 2946 | Intron | XP_016864227.1 | |||
XM_017008739.1 | 2946 | Intron | XP_016864228.1 | |||
XM_017008740.1 | 2946 | Intron | XP_016864229.1 | |||
XM_017008741.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1382 | XP_016864230.1 | |
XM_017008742.1 | 2946 | Intron | XP_016864231.1 | |||
XM_017008743.1 | 2946 | Intron | XP_016864232.1 | |||
XM_017008744.1 | 2946 | Intron | XP_016864233.1 | |||
XM_017008745.1 | 2946 | Intron | XP_016864234.1 | |||
XM_017008746.1 | 2946 | Intron | XP_016864235.1 | |||
XM_017008747.1 | 2946 | Intron | XP_016864236.1 | |||
XM_017008748.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1282 | XP_016864237.1 | |
XM_017008749.1 | 2946 | Intron | XP_016864238.1 | |||
XM_017008750.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1127 | XP_016864239.1 | |
XM_017008751.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1099 | XP_016864240.1 | |
XM_017008752.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1074 | XP_016864241.1 | |
XM_017008753.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1027 | XP_016864242.1 | |
XM_017008754.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1012 | XP_016864243.1 | |
XM_017008755.1 | 2946 | Missense Mutation | ACC,TCC | T,S 856 | XP_016864244.1 | |
XM_017008756.1 | 2946 | Missense Mutation | ACC,TCC | T,S 810 | XP_016864245.1 | |
XM_017008757.1 | 2946 | Missense Mutation | ACC,TCC | T,S 786 | XP_016864246.1 | |
XM_017008758.1 | 2946 | Missense Mutation | ACC,TCC | T,S 741 | XP_016864247.1 | |
XM_017008759.1 | 2946 | Missense Mutation | ACC,TCC | T,S 734 | XP_016864248.1 | |
XM_017008760.1 | 2946 | Missense Mutation | ACC,TCC | T,S 696 | XP_016864249.1 | |
XM_017008761.1 | 2946 | Intron | XP_016864250.1 | |||
XM_017008762.1 | 2946 | Missense Mutation | ACC,TCC | T,S 655 | XP_016864251.1 | |
XM_017008763.1 | 2946 | Missense Mutation | ACC,TCC | T,S 641 | XP_016864252.1 | |
XM_017008764.1 | 2946 | Missense Mutation | ACC,TCC | T,S 632 | XP_016864253.1 | |
XM_017008765.1 | 2946 | Missense Mutation | ACC,TCC | T,S 632 | XP_016864254.1 | |
XM_017008766.1 | 2946 | Missense Mutation | ACC,TCC | T,S 624 | XP_016864255.1 | |
XM_017008767.1 | 2946 | Missense Mutation | ACC,TCC | T,S 624 | XP_016864256.1 | |
XM_017008768.1 | 2946 | Missense Mutation | ACC,TCC | T,S 618 | XP_016864257.1 | |
XM_017008769.1 | 2946 | Missense Mutation | ACC,TCC | T,S 617 | XP_016864258.1 | |
XM_017008770.1 | 2946 | Missense Mutation | ACC,TCC | T,S 609 | XP_016864259.1 | |
XM_017008771.1 | 2946 | Missense Mutation | ACC,TCC | T,S 627 | XP_016864260.1 | |
XM_017008772.1 | 2946 | Missense Mutation | ACC,TCC | T,S 601 | XP_016864261.1 | |
XM_017008773.1 | 2946 | Missense Mutation | ACC,TCC | T,S 601 | XP_016864262.1 | |
XM_017008774.1 | 2946 | Missense Mutation | ACC,TCC | T,S 546 | XP_016864263.1 | |
XM_017008775.1 | 2946 | Missense Mutation | ACC,TCC | T,S 1112 | XP_016864264.1 |