Product Details

SNP ID
rs199580689
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:150629453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTCTCCTCCGCAGGGTTCTCTTC[C/T]TCTTGTTTCTGGGACATGGCGGGAC
Phenotype
MIM: 603061
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ENSA PubMed Links

Gene Details

Gene
ENSA
Gene Name
endosulfine alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004436.2 170 Silent Mutation GAA,GAG E6E NP_004427.1
NM_207042.1 170 Silent Mutation GAA,GAG E6E NP_996925.1
NM_207043.1 170 Intron NP_996926.1
NM_207044.1 170 Intron NP_996927.1
NM_207045.1 170 Intron NP_996928.1
NM_207046.1 170 Intron NP_996929.1
NM_207047.1 170 Intron NP_996930.1
NM_207168.1 170 Silent Mutation GAA,GAG E6E NP_997051.1

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