Product Details

SNP ID
rs62622817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40628790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACAAAACAAGGCAACACTTATT[A/C]TTTTTTCTCATCTTCTGGTATGGGA
Phenotype
MIM: 603111
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SMARCE1 PubMed Links

Gene Details

Gene
SMARCE1
Gene Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003079.4 1355 Missense Mutation NP_003070.3

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