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SNP ID

rs201282286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:36169851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTATTTCAACACACCACGCCTT[C/T]GAGTTCACTGTAACGACTTCCTTAT

Phenotype

MIM: 603960 MIM: 607141

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCIN PubMed Links

Gene Details

Gene

CCIN

Gene Name

calicin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005893.2	460	Nonsense Mutation	CGA,TGA	R117*	NP_005884.2

Gene

GLIPR2

Gene Name

GLI pathogenesis related 2

There are no transcripts associated with this gene.

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