Product Details

SNP ID

rs145496383

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:37997476 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGTACGAAGCCCTGGCCCACCA[C/G]GGAGGTAGAGCAGCGGGCGCAGGAG

Phenotype

MIM: 602790 MIM: 605596

Polymorphism

C/G, Transversion 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	375	Missense Mutation	CTG,GTG	L150V	NP_001230807.1
NM_004468.4	375	Missense Mutation	CTG,GTG	L258V	NP_004459.2
XM_017000675.1	375	Missense Mutation	CTG,GTG	L125V	XP_016856164.1

Gene

SF3A3

Gene Name

splicing factor 3a subunit 3

There are no transcripts associated with this gene.

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