Product Details
- SNP ID
-
rs200596121
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:19541997 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGTGTCCTTAGCTCCTCCACGGCC[A/G]CCTGGCTGCTGGCCGCAGGCTCCAT
- Phenotype
-
MIM: 300374
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SH3KBP1
PubMed Links
Gene Details
- Gene
- SH3KBP1
- Gene Name
- SH3 domain containing kinase binding protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001024666.2 |
1917 |
Missense Mutation |
GCG,GTG |
A570V |
NP_001019837.1 |
NM_001184960.1 |
1917 |
Missense Mutation |
GCG,GTG |
A369V |
NP_001171889.1 |
NM_031892.2 |
1917 |
Missense Mutation |
GCG,GTG |
A607V |
NP_114098.1 |
XM_005274494.2 |
1917 |
Missense Mutation |
GCG,GTG |
A632V |
XP_005274551.1 |
XM_011545498.2 |
1917 |
Missense Mutation |
GCG,GTG |
A651V |
XP_011543800.1 |
XM_011545499.2 |
1917 |
Missense Mutation |
GCG,GTG |
A614V |
XP_011543801.1 |
XM_011545500.2 |
1917 |
Missense Mutation |
GCG,GTG |
A608V |
XP_011543802.1 |
XM_011545502.2 |
1917 |
Missense Mutation |
GCG,GTG |
A386V |
XP_011543804.1 |
XM_011545503.2 |
1917 |
Intron |
|
|
XP_011543805.1 |
XM_017029459.1 |
1917 |
Missense Mutation |
GCG,GTG |
A620V |
XP_016884948.1 |
XM_017029460.1 |
1917 |
Missense Mutation |
GCG,GTG |
A610V |
XP_016884949.1 |
XM_017029461.1 |
1917 |
Missense Mutation |
GCG,GTG |
A591V |
XP_016884950.1 |
XM_017029462.1 |
1917 |
Missense Mutation |
GCG,GTG |
A589V |
XP_016884951.1 |
XM_017029463.1 |
1917 |
Missense Mutation |
GCG,GTG |
A576V |
XP_016884952.1 |
XM_017029464.1 |
1917 |
Missense Mutation |
GCG,GTG |
A567V |
XP_016884953.1 |
XM_017029465.1 |
1917 |
Missense Mutation |
GCG,GTG |
A566V |
XP_016884954.1 |
XM_017029466.1 |
1917 |
Missense Mutation |
GCG,GTG |
A564V |
XP_016884955.1 |
XM_017029467.1 |
1917 |
Missense Mutation |
GCG,GTG |
A548V |
XP_016884956.1 |
XM_017029468.1 |
1917 |
Missense Mutation |
GCG,GTG |
A523V |
XP_016884957.1 |
XM_017029469.1 |
1917 |
Missense Mutation |
GCG,GTG |
A346V |
XP_016884958.1 |
XM_017029470.1 |
1917 |
Missense Mutation |
GCG,GTG |
A326V |
XP_016884959.1 |
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