Product Details

SNP ID: rs149567782
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:216415000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTTTTCAGGCAAAGGGAATATGGA[A/G]AAAGCCAGAAGAAATGCCCACAGCC
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	440	Missense Mutation	AAA,AGA	K99R	NP_001120679.1
NM_014140.3	440	Missense Mutation	AAA,AGA	K99R	NP_054859.2
XM_005246631.2	440	Missense Mutation	AAA,AGA	K99R	XP_005246688.1
XM_005246632.1	440	Missense Mutation	AAA,AGA	K99R	XP_005246689.1
XM_017004228.1	440	UTR 5			XP_016859717.1