Product Details
- SNP ID
-
rs112158586
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:185587666 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGTAGTTTCCGGGGAAAGTACCAAA[G/T]AATTTGGTTCTTCTTGAGGTCCCTG
- Phenotype
-
MIM: 616349
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SORBS2
PubMed Links
Gene Details
- Gene
- SORBS2
- Gene Name
- sorbin and SH3 domain containing 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001145670.1 |
2966 |
Missense Mutation |
TTA,TTC |
L632F |
NP_001139142.1 |
NM_001145671.2 |
2966 |
Missense Mutation |
TTA,TTC |
L719F |
NP_001139143.1 |
NM_001145672.1 |
2966 |
Missense Mutation |
TTA,TTC |
L649F |
NP_001139144.1 |
NM_001145673.1 |
2966 |
Missense Mutation |
TTA,TTC |
L812F |
NP_001139145.1 |
NM_001145674.1 |
2966 |
Missense Mutation |
TTA,TTC |
L992F |
NP_001139146.1 |
NM_001145675.1 |
2966 |
Missense Mutation |
TTA,TTC |
L480F |
NP_001139147.1 |
NM_001270771.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1188F |
NP_001257700.1 |
NM_003603.6 |
2966 |
Missense Mutation |
TTA,TTC |
L654F |
NP_003594.3 |
NM_021069.4 |
2966 |
Missense Mutation |
TTA,TTC |
L1088F |
NP_066547.1 |
XM_005263307.1 |
2966 |
Missense Mutation |
TTA,TTC |
L947F |
XP_005263364.1 |
XM_005263308.1 |
2966 |
Missense Mutation |
TTA,TTC |
L733F |
XP_005263365.1 |
XM_005263310.1 |
2966 |
Missense Mutation |
TTA,TTC |
L685F |
XP_005263367.1 |
XM_005263311.1 |
2966 |
Missense Mutation |
TTA,TTC |
L680F |
XP_005263368.1 |
XM_005263312.1 |
2966 |
Missense Mutation |
TTA,TTC |
L679F |
XP_005263369.1 |
XM_005263313.1 |
2966 |
Missense Mutation |
TTA,TTC |
L646F |
XP_005263370.1 |
XM_006714388.1 |
2966 |
Missense Mutation |
TTA,TTC |
L710F |
XP_006714451.1 |
XM_006714390.1 |
2966 |
Missense Mutation |
TTA,TTC |
L649F |
XP_006714453.1 |
XM_017008738.1 |
2966 |
Intron |
|
|
XP_016864227.1 |
XM_017008739.1 |
2966 |
Intron |
|
|
XP_016864228.1 |
XM_017008740.1 |
2966 |
Intron |
|
|
XP_016864229.1 |
XM_017008741.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1388F |
XP_016864230.1 |
XM_017008742.1 |
2966 |
Intron |
|
|
XP_016864231.1 |
XM_017008743.1 |
2966 |
Intron |
|
|
XP_016864232.1 |
XM_017008744.1 |
2966 |
Intron |
|
|
XP_016864233.1 |
XM_017008745.1 |
2966 |
Intron |
|
|
XP_016864234.1 |
XM_017008746.1 |
2966 |
Intron |
|
|
XP_016864235.1 |
XM_017008747.1 |
2966 |
Intron |
|
|
XP_016864236.1 |
XM_017008748.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1288F |
XP_016864237.1 |
XM_017008749.1 |
2966 |
Intron |
|
|
XP_016864238.1 |
XM_017008750.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1133F |
XP_016864239.1 |
XM_017008751.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1105F |
XP_016864240.1 |
XM_017008752.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1080F |
XP_016864241.1 |
XM_017008753.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1033F |
XP_016864242.1 |
XM_017008754.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1018F |
XP_016864243.1 |
XM_017008755.1 |
2966 |
Missense Mutation |
TTA,TTC |
L862F |
XP_016864244.1 |
XM_017008756.1 |
2966 |
Missense Mutation |
TTA,TTC |
L816F |
XP_016864245.1 |
XM_017008757.1 |
2966 |
Missense Mutation |
TTA,TTC |
L792F |
XP_016864246.1 |
XM_017008758.1 |
2966 |
Missense Mutation |
TTA,TTC |
L747F |
XP_016864247.1 |
XM_017008759.1 |
2966 |
Missense Mutation |
TTA,TTC |
L740F |
XP_016864248.1 |
XM_017008760.1 |
2966 |
Missense Mutation |
TTA,TTC |
L702F |
XP_016864249.1 |
XM_017008761.1 |
2966 |
Intron |
|
|
XP_016864250.1 |
XM_017008762.1 |
2966 |
Missense Mutation |
TTA,TTC |
L661F |
XP_016864251.1 |
XM_017008763.1 |
2966 |
Missense Mutation |
TTA,TTC |
L647F |
XP_016864252.1 |
XM_017008764.1 |
2966 |
Missense Mutation |
TTA,TTC |
L638F |
XP_016864253.1 |
XM_017008765.1 |
2966 |
Missense Mutation |
TTA,TTC |
L638F |
XP_016864254.1 |
XM_017008766.1 |
2966 |
Missense Mutation |
TTA,TTC |
L630F |
XP_016864255.1 |
XM_017008767.1 |
2966 |
Missense Mutation |
TTA,TTC |
L630F |
XP_016864256.1 |
XM_017008768.1 |
2966 |
Missense Mutation |
TTA,TTC |
L624F |
XP_016864257.1 |
XM_017008769.1 |
2966 |
Missense Mutation |
TTA,TTC |
L623F |
XP_016864258.1 |
XM_017008770.1 |
2966 |
Missense Mutation |
TTA,TTC |
L615F |
XP_016864259.1 |
XM_017008771.1 |
2966 |
Missense Mutation |
TTA,TTC |
L633F |
XP_016864260.1 |
XM_017008772.1 |
2966 |
Missense Mutation |
TTA,TTC |
L607F |
XP_016864261.1 |
XM_017008773.1 |
2966 |
Missense Mutation |
TTA,TTC |
L607F |
XP_016864262.1 |
XM_017008774.1 |
2966 |
Missense Mutation |
TTA,TTC |
L552F |
XP_016864263.1 |
XM_017008775.1 |
2966 |
Missense Mutation |
TTA,TTC |
L1118F |
XP_016864264.1 |
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