Product Details

SNP ID

rs147927855

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:37997978 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCCCCACCTTGCTGCAGCGGGC[A/G]CAGCGAGGAGCAAACTTGTTCTCAT

Phenotype

MIM: 602790 MIM: 605596

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FHL3 PubMed Links

Gene Details

Gene

FHL3

Gene Name

four and a half LIM domains 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243878.1	489	Silent Mutation	TGA,TGG	*54W	NP_001230807.1
NM_004468.4	489	Silent Mutation	TGA,TGG	*162W	NP_004459.2
XM_017000675.1	489	Intron			XP_016856164.1

Gene

SF3A3

Gene Name

splicing factor 3a subunit 3

There are no transcripts associated with this gene.

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