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SNP ID

rs200679414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19540374 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCTGCCGTCCGCCGTCGGCGAG[C/T]GCGTGCACTTGAACCCCACGCGCGG

Phenotype

MIM: 612419

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CILP2 PubMed Links

Gene Details

Gene

CILP2

Gene Name

cartilage intermediate layer protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153221.2	419	Missense Mutation	CGC,TGC	R112C	NP_694953.2

Gene

YJEFN3

Gene Name

YjeF N-terminal domain containing 3

There are no transcripts associated with this gene.

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