Product Details

SNP ID

rs200745214

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:173803380 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCTGCTCCATTTGCAAGGAATAA[C/G]GGCAGACAGGTGAAATCTTCTGAAA

Phenotype

MIM: 611503

Polymorphism

C/G, Transversion 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	1149	Silent Mutation	CCC,CCG	P228P	NP_001120653.1
NM_001171182.1	1149	Silent Mutation	CCC,CCG	P182P	NP_001164653.1
NM_033319.3	1149	Silent Mutation	CCC,CCG	P182P	NP_201576.1

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