Product Details

SNP ID
rs147048179
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:1387853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCTCCGGCTCCGACTCCGACTCT[C/G]TCGCCCCTTTGGCAAGCTGTGAACA
Phenotype
MIM: 613482
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CCNL2 PubMed Links

Gene Details

Gene
CCNL2
Gene Name
cyclin L2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039577.3 1051 Intron NP_001034666.1
NM_001320153.1 1051 Missense Mutation CAG,GAG Q157E NP_001307082.1
NM_001320155.1 1051 Missense Mutation CAG,GAG Q157E NP_001307084.1
NM_030937.4 1051 Missense Mutation CAG,GAG Q379E NP_112199.2
XM_011542216.2 1051 Missense Mutation CAG,GAG Q412E XP_011540518.1
XM_011542219.2 1051 Missense Mutation CAG,GAG Q248E XP_011540521.1
XM_011542221.2 1051 Missense Mutation CAG,GAG Q157E XP_011540523.1
XM_017002420.1 1051 Missense Mutation CAG,GAG Q257E XP_016857909.1
XM_017002421.1 1051 Missense Mutation CAG,GAG Q248E XP_016857910.1
XM_017002422.1 1051 Missense Mutation CAG,GAG Q157E XP_016857911.1
XM_017002423.1 1051 Intron XP_016857912.1

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