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SNP ID

rs200463413

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:35715768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAATCAACTGATGCTGCAGGCCC[C/T]GGATCCACTGGAGCAGTGCCAGGCG

Phenotype

MIM: 605434

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1orf216 PubMed Links

Gene Details

Gene

C1orf216

Gene Name

chromosome 1 open reading frame 216

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152374.1	1042	Missense Mutation	CAG,CGG	Q185R	NP_689587.1

Gene

CLSPN

Gene Name

claspin

There are no transcripts associated with this gene.

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