Product Details

SNP ID
rs75009327
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:28864417 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGTGTGAGCCGAGGTGGCCGCT[A/G]GCTGGAGATTGGTTTGCACTTCTTG
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_001145795.1 466 Intron NP_001139267.1
NM_001145796.1 466 Intron NP_001139268.1
NM_001145797.1 466 Intron NP_001139269.1
NM_001145812.1 466 Intron NP_001139284.1
NM_001308293.1 466 Intron NP_001295222.1
NM_001308294.1 466 Intron NP_001295223.1
NM_015503.2 466 UTR 5 NP_056318.2
XM_017023114.1 466 Intron XP_016878603.1
XM_017023115.1 466 Intron XP_016878604.1
XM_017023116.1 466 UTR 5 XP_016878605.1
XM_017023117.1 466 Intron XP_016878606.1
XM_017023118.1 466 Intron XP_016878607.1
XM_017023119.1 466 Intron XP_016878608.1
XM_017023120.1 466 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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