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SNP ID: rs4942830
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.13:49445240 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GTTAGGGGGATTAAATAAGAACACG[A/T]GAAGTAGTTAGAAGCGTGACTAACC
Phenotype: MIM: 612175 MIM: 607865
Polymorphism: A/T, Transversion 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		Intron			NP_001073138.1
NM_001287337.1		Intron			NP_001274266.1
NM_001287338.1		Intron			NP_001274267.1
NM_001287339.1		Intron			NP_001274268.1
NM_030925.3		Intron			NP_112187.2
XM_011535254.2		Intron			XP_011533556.1
XM_011535255.2		Intron			XP_011533557.1
XM_011535256.2		Intron			XP_011533558.1
XM_017020785.1		Intron			XP_016876274.1
XM_017020786.1		Intron			XP_016876275.1
XM_017020787.1		Intron			XP_016876276.1
XM_017020788.1		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		Intron			NP_001153780.1
NM_001320699.1		Intron			NP_001307628.1
NM_031915.2		Intron			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		Intron			NP_001307656.1

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