Product Details

SNP ID
rs200493887
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40580355 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGAAGCGGCGGAACCGGCACAG[C/T]CTAGTGGGGCCTCAGCAGCTAGGAG
Phenotype
MIM: 606214
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SHKBP1 PubMed Links

Gene Details

Gene
SHKBP1
Gene Name
SH3KBP1 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138392.3 481 Silent Mutation AGC,AGT S144S NP_612401.2
XM_006723474.1 481 Silent Mutation AGC,AGT S144S XP_006723537.1
XM_006723475.1 481 Silent Mutation AGC,AGT S144S XP_006723538.1
XM_011527492.1 481 Silent Mutation AGC,AGT S144S XP_011525794.1
XM_011527493.1 481 UTR 5 XP_011525795.1
XM_017027473.1 481 Silent Mutation AGC,AGT S144S XP_016882962.1
XM_017027474.1 481 UTR 5 XP_016882963.1
Gene
SPTBN4
Gene Name
spectrin beta, non-erythrocytic 4
There are no transcripts associated with this gene.

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