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SNP ID

rs141708238

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18784290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGTCCTTCCACAGCAGCCGCACC[A/T]GGGACTCTGTGTCTCCTGTATGCCA

Phenotype

MIM: 600310 MIM: 607536

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

COMP PubMed Links

Gene Details

Gene

COMP

Gene Name

cartilage oligomeric matrix protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000095.2	2024	Missense Mutation	CAG,CTG	Q663L	NP_000086.2

Gene

CRTC1

Gene Name

CREB regulated transcription coactivator 1

There are no transcripts associated with this gene.

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