Product Details

SNP ID
rs150591090
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:216414974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACCAAAGACCTCATGATTCCCA[C/T]AGTTTTCAGGCAAAGGGAATATGGA
Phenotype
MIM: 606622
Polymorphism
C/T, 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_001127207.1 414 Silent Mutation CAC,CAT H90H NP_001120679.1
NM_014140.3 414 Silent Mutation CAC,CAT H90H NP_054859.2
XM_005246631.2 414 Silent Mutation CAC,CAT H90H XP_005246688.1
XM_005246632.1 414 Silent Mutation CAC,CAT H90H XP_005246689.1
XM_017004228.1 414 UTR 5 XP_016859717.1

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