Product Details

SNP ID
rs201139564
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:33153104 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTTGCCATGATCGTTGAGGGGA[C/T]GTGGTTAGGTGTCTGCTTGACAGTG
Phenotype
MIM: 605497
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRTAP PubMed Links

Gene Details

Gene
CRTAP
Gene Name
cartilage associated protein
There are no transcripts associated with this gene.

Gene
SUSD5
Gene Name
sushi domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015551.1 1946 Missense Mutation ATC,GTC I510V NP_056366.1
XM_005265034.3 1946 Missense Mutation ATC,GTC I447V XP_005265091.1
XM_017006137.1 1946 Missense Mutation ATC,GTC I400V XP_016861626.1

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