Product Details

SNP ID

rs138416464

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30651943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGGTCCTGGCCGTGGTGCTAGA[A/T]GATGTCATGGCTGTTCACATGGTGA

Phenotype

MIM: 608601

Polymorphism

A/T, Transversion 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	482	Missense Mutation	GAA,GAT	E57D	NP_001307393.1
NM_024031.3	482	Missense Mutation	GAA,GAT	E57D	NP_076936.1

View Full Product Details