Product Details

SNP ID
rs5753455
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:31081916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGTCTTGAAGAGGTTTAACCCA[G/T]ACAGAGTAACTAGGTAAGAGGCAAG
Phenotype
MIM: 602127
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SMTN PubMed Links

Gene Details

Gene
SMTN
Gene Name
smoothelin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207017.1 Intron NP_001193946.1
NM_001207018.1 Intron NP_001193947.1
NM_006932.4 Intron NP_008863.3
NM_134269.2 Intron NP_599031.1
NM_134270.2 Intron NP_599032.2

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