Product Details

SNP ID: hCV29072030
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:216415273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGACAGCCTCCCAGGGATGCTAAGT[G/T]AGAGGCCAAGACAGCAAAAGCCTCC
Phenotype: MIM: 606622
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: SMARCAL1 PubMed Links

Gene Details

Gene: SMARCAL1
Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127207.1	713	Nonsense Mutation	TGA,TTA	*190L	NP_001120679.1
NM_014140.3	713	Nonsense Mutation	TGA,TTA	*190L	NP_054859.2