Product Details

SNP ID
rs199942327
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:173825313 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACCACCCAACCGATCTGGGGTTC[C/T]CTCTACAGAAGTCTGTTGCAGAGTT
Phenotype
MIM: 611503 MIM: 610956
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CENPL PubMed Links

Gene Details

Gene
CENPL
Gene Name
centromere protein L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127181.2 655 Intron NP_001120653.1
NM_001171182.1 655 Intron NP_001164653.1
NM_033319.3 655 Intron NP_201576.1
Gene
DARS2
Gene Name
aspartyl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018122.4 655 Silent Mutation TCC,TCT S28S NP_060592.2
XM_006711427.3 655 Silent Mutation TCC,TCT S28S XP_006711490.1
XM_011509711.2 655 Silent Mutation TCC,TCT S28S XP_011508013.1

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