Product Details

SNP ID
rs116333808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40580423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACGGAGCAACACGATGCCCCCCA[A/G]CCTTGGCAATGCAGGGCTGCTGGGC
Phenotype
MIM: 606214
Polymorphism
A/G, 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_138392.3 549 Missense Mutation AAC,AGC N167S NP_612401.2
XM_006723474.1 549 Missense Mutation AAC,AGC N167S XP_006723537.1
XM_006723475.1 549 Missense Mutation AAC,AGC N167S XP_006723538.1
XM_011527492.1 549 Missense Mutation AAC,AGC N167S XP_011525794.1
XM_011527493.1 549 Missense Mutation AAC,AGC N4S XP_011525795.1
XM_017027473.1 549 Missense Mutation AAC,AGC N167S XP_016882962.1
XM_017027474.1 549 Missense Mutation AAC,AGC N4S XP_016882963.1
Gene
SPTBN4
Gene Name
spectrin beta, non-erythrocytic 4
There are no transcripts associated with this gene.

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