Product Details

SNP ID
rs200464150
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:76313223 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTACTTTCTGTATCCTCTTTTCTT[G/T]ATTTCTGATCATTGAAGACATTGCT
Phenotype
MIM: 607406
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
CCDC158 PubMed Links

Gene Details

Gene
CCDC158
Gene Name
coiled-coil domain containing 158
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042784.1 3442 Missense Mutation AAA,CAA K1097Q NP_001036249.1
XM_005262974.4 3442 Missense Mutation AAA,CAA K1097Q XP_005263031.1
XM_006714204.3 3442 Missense Mutation AAA,CAA K1101Q XP_006714267.1
XM_011531908.2 3442 Missense Mutation AAA,CAA K1101Q XP_011530210.1
XM_011531909.2 3442 Missense Mutation AAA,CAA K1101Q XP_011530211.1
XM_011531910.2 3442 Missense Mutation AAA,CAA K1101Q XP_011530212.1
XM_011531911.1 3442 Missense Mutation AAA,CAA K1101Q XP_011530213.1
XM_011531912.2 3442 Missense Mutation AAA,CAA K1101Q XP_011530214.1
XM_011531913.1 3442 Missense Mutation AAA,CAA K1101Q XP_011530215.1
XM_011531914.2 3442 Missense Mutation AAA,CAA K1101Q XP_011530216.1
XM_011531915.2 3442 Missense Mutation AAA,CAA K1050Q XP_011530217.1
XM_011531916.2 3442 Missense Mutation AAA,CAA K1019Q XP_011530218.1
XM_011531917.1 3442 Missense Mutation AAA,CAA K1019Q XP_011530219.1
XM_017008160.1 3442 Missense Mutation AAA,CAA K1101Q XP_016863649.1
XM_017008161.1 3442 Missense Mutation AAA,CAA K801Q XP_016863650.1
Gene
FAM47E-STBD1
Gene Name
FAM47E-STBD1 readthrough
There are no transcripts associated with this gene.

Gene
STBD1
Gene Name
starch binding domain 1
There are no transcripts associated with this gene.

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