Product Details

SNP ID
rs146665318
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30653038 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGGCCCTTCACAAAAGGTGGAC[C/T]GGGCCCCCCAGCCCACCCTGGTGGT
Phenotype
MIM: 608601
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FBRS PubMed Links

Gene Details

Gene
FBRS
Gene Name
fibrosin
There are no transcripts associated with this gene.

Gene
PRR14
Gene Name
proline rich 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320464.1 750 Missense Mutation CGG,TGG R147W NP_001307393.1
NM_024031.3 750 Missense Mutation CGG,TGG R147W NP_076936.1

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