Product Details

SNP ID

rs148554460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18784264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGTCCTTCCAACCCACGTTTC[A/G]CGGGTCCTTCCACAGCAGCCGCACC

Phenotype

MIM: 600310 MIM: 607536

Polymorphism

A/G, Transition 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	2050	Nonsense Mutation	CGA,TGA	R672*	NP_000086.2

Gene

CRTC1

Gene Name

CREB regulated transcription coactivator 1

There are no transcripts associated with this gene.

View Full Product Details