Product Details

SNP ID: rs11555797
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:216415045 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: ACAGCCTGCCCAGGCCACAGTCCAC[A/G]TAGTCAAATGGCTCTCACTGGAATC
Phenotype: MIM: 606622
Polymorphism: A/G, Transition 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	485	Missense Mutation	CAT,CGT	H114R	NP_001120679.1
NM_014140.3	485	Missense Mutation	CAT,CGT	H114R	NP_054859.2
XM_005246631.2	485	Missense Mutation	CAT,CGT	H114R	XP_005246688.1
XM_005246632.1	485	Missense Mutation	CAT,CGT	H114R	XP_005246689.1
XM_017004228.1	485	UTR 5			XP_016859717.1