Product Details

SNP ID
rs138529127
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22554522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCCAAGCATGCAGGGCCCACCC[C/T]GCAGCCTCCGCGCTGGGCTCAGCCT
Phenotype
MIM: 610795
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SORBS3 PubMed Links

Gene Details

Gene
SORBS3
Gene Name
sorbin and SH3 domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018003.2 765 Intron NP_001018003.1
NM_005775.4 765 Missense Mutation CGC,TGC R6C NP_005766.3
XM_005273371.1 765 Intron XP_005273428.1
XM_006716266.1 765 Missense Mutation CGC,TGC R60C XP_006716329.1
XM_006716268.2 765 Missense Mutation CGC,TGC R6C XP_006716331.1
XM_017012944.1 765 Intron XP_016868433.1
XM_017012945.1 765 Intron XP_016868434.1
XM_017012946.1 765 Intron XP_016868435.1

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