Product Details

SNP ID
rs116159708
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:49444505 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGGCGTAGAAAACGCAGCGGAG[C/T]CAGGTGAAACCAAGGCACCGCCGTG
Phenotype
MIM: 612175 MIM: 607865
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CAB39L PubMed Links

Gene Details

Gene
CAB39L
Gene Name
calcium binding protein 39 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079670.2 213 Intron NP_001073138.1
NM_001287337.1 213 Intron NP_001274266.1
NM_001287338.1 213 Intron NP_001274267.1
NM_001287339.1 213 Intron NP_001274268.1
NM_030925.3 213 Intron NP_112187.2
XM_011535254.2 213 Intron XP_011533556.1
XM_011535255.2 213 Intron XP_011533557.1
XM_011535256.2 213 Intron XP_011533558.1
XM_017020785.1 213 Intron XP_016876274.1
XM_017020786.1 213 Intron XP_016876275.1
XM_017020787.1 213 Intron XP_016876276.1
XM_017020788.1 213 Intron XP_016876277.1
Gene
SETDB2
Gene Name
SET domain bifurcated 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160308.2 213 UTR 5 NP_001153780.1
NM_001320699.1 213 UTR 5 NP_001307628.1
NM_031915.2 213 UTR 5 NP_114121.2
Gene
SETDB2-PHF11
Gene Name
SETDB2-PHF11 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320727.1 213 UTR 5 NP_001307656.1

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