Product Details

SNP ID: hCV42656416
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:216415322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCTTCGGGGCAGAACATTTCTTA[C/G]ATCCATTCTAGCTCAGAGAGTGTAA
Phenotype: MIM: 606622
Polymorphism: C/G, 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	762	Nonsense Mutation	TAC,TAG	Y206*	NP_001120679.1
NM_014140.3	762	Nonsense Mutation	TAC,TAG	Y206*	NP_054859.2