Product Details

SNP ID

rs114946269

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:33114209 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCACGGGACGAGCTGATGCCGCT[C/G]GAGTCGGCCTACCGGCACGCGCTGG

Phenotype

MIM: 605497

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CRTAP PubMed Links

Gene Details

Gene

CRTAP

Gene Name

cartilage associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006371.4	252	Silent Mutation	CTC,CTG	L44L	NP_006362.1

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