Product Details

SNP ID
rs112969836
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22554534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGGCCCACCCCGCAGCCTCCGC[G/T]CTGGGCTCAGCCTGGACGACTTCAT
Phenotype
MIM: 610795
Polymorphism
G/T, Transversion 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_001018003.2 777 Intron NP_001018003.1
NM_005775.4 777 Missense Mutation GCT,TCT A10S NP_005766.3
XM_005273371.1 777 Intron XP_005273428.1
XM_006716266.1 777 Missense Mutation GCT,TCT A64S XP_006716329.1
XM_006716268.2 777 Missense Mutation GCT,TCT A10S XP_006716331.1
XM_017012944.1 777 Intron XP_016868433.1
XM_017012945.1 777 Intron XP_016868434.1
XM_017012946.1 777 Intron XP_016868435.1

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