Product Details

SNP ID
rs113268712
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11436125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAGAGCGTCTGGTGAGATGCTGT[C/T]GCCGCTGCTGCTGCTGCTACCCATG
Phenotype
MIM: 615956 MIM: 177060
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC151 PubMed Links

Gene Details

Gene
CCDC151
Gene Name
coiled-coil domain containing 151
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302453.1 386 Intron NP_001289382.1
NM_001302454.1 386 Intron NP_001289383.1
NM_145045.4 386 Intron NP_659482.3
XM_017026241.1 386 Intron XP_016881730.1
Gene
PRKCSH
Gene Name
protein kinase C substrate 80K-H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001329.2 386 Missense Mutation TCG,TTG S3L NP_001001329.1
NM_001289102.1 386 Missense Mutation TCG,TTG S3L NP_001276031.1
NM_001289103.1 386 Missense Mutation TCG,TTG S3L NP_001276032.1
NM_001289104.1 386 Missense Mutation TCG,TTG S3L NP_001276033.1
NM_002743.3 386 Missense Mutation TCG,TTG S3L NP_002734.2
XM_011528130.1 386 Missense Mutation TCG,TTG S3L XP_011526432.1
XM_011528131.1 386 Missense Mutation TCG,TTG S3L XP_011526433.1
XM_011528132.1 386 Missense Mutation TCG,TTG S3L XP_011526434.1
XM_017026977.1 386 Missense Mutation TCG,TTG S3L XP_016882466.1

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