Product Details

SNP ID

rs144165240

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30652815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCAGCCGCCTGCCTCGCCACCCC[A/G]GCAGGCCGGGTGGTCCTCGCAGGCC

Phenotype

MIM: 608601

Polymorphism

A/G, 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	598	Missense Mutation	CAG,CGG	Q96R	NP_001307393.1
NM_024031.3	598	Missense Mutation	CAG,CGG	Q96R	NP_076936.1

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