Product Details
- SNP ID
-
rs200897662
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:28866316 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCGTTTTGCTGAGCTCTTCCTGCA[A/G]CACTTTGAAGCCGAGGTGGCCCGGG
- Phenotype
-
MIM: 608937
MIM: 602389
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SH2B1
PubMed Links
Gene Details
- Gene
- SH2B1
- Gene Name
- SH2B adaptor protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001145795.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_001139267.1 |
NM_001145796.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_001139268.1 |
NM_001145797.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_001139269.1 |
NM_001145812.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_001139284.1 |
NM_001308293.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_001295222.1 |
NM_001308294.1 |
913 |
Intron |
|
|
NP_001295223.1 |
NM_015503.2 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
NP_056318.2 |
XM_017023114.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
XP_016878603.1 |
XM_017023115.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
XP_016878604.1 |
XM_017023116.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
XP_016878605.1 |
XM_017023117.1 |
913 |
Silent Mutation |
CAA,CAG |
Q74Q |
XP_016878606.1 |
XM_017023118.1 |
913 |
Intron |
|
|
XP_016878607.1 |
XM_017023119.1 |
913 |
Intron |
|
|
XP_016878608.1 |
XM_017023120.1 |
913 |
Intron |
|
|
XP_016878609.1 |
- Gene
- TUFM
- Gene Name
- Tu translation elongation factor, mitochondrial
There are no transcripts associated with this gene.
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