Product Details

SNP ID
rs2233514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127740265 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CACGCAACAAGGAAGTACCTTTGCC[C/T]TCGTTGAGGCTCTTGAGAAAAGGCT
Phenotype
MIM: 604722 MIM: 608052
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SH2D3C PubMed Links

Gene Details

Gene
SH2D3C
Gene Name
SH2 domain containing 3C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142531.1 1843 Silent Mutation GAA,GAG E377E NP_001136003.1
NM_001142532.1 1843 Silent Mutation GAA,GAG E377E NP_001136004.1
NM_001142533.1 1843 Silent Mutation GAA,GAG E573E NP_001136005.1
NM_001142534.1 1843 Silent Mutation GAA,GAG E571E NP_001136006.1
NM_001252334.1 1843 Silent Mutation GAA,GAG E663E NP_001239263.1
NM_005489.3 1843 Silent Mutation GAA,GAG E574E NP_005480.2
NM_170600.2 1843 Silent Mutation GAA,GAG E731E NP_733745.1
XM_005251639.1 1843 Silent Mutation GAA,GAG E377E XP_005251696.1
XM_011518114.1 1843 Silent Mutation GAA,GAG E675E XP_011516416.1
XM_011518115.1 1843 Silent Mutation GAA,GAG E675E XP_011516417.1
XM_011518117.2 1843 Silent Mutation GAA,GAG E377E XP_011516419.1
XM_017014174.1 1843 Silent Mutation GAA,GAG E377E XP_016869663.1
Gene
TOR2A
Gene Name
torsin family 2 member A
There are no transcripts associated with this gene.

Gene
TTC16
Gene Name
tetratricopeptide repeat domain 16
There are no transcripts associated with this gene.

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