Product Details

SNP ID
rs17847055
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:150625691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGACTTTCTCTGGGGCAGATCCT[G/A]TGGGGTGGGGATGTGATCACCAGTC
Phenotype
MIM: 603061
Polymorphism
G/A, 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_004436.2 317 Nonsense Mutation CAG,TAG Q101* NP_004427.1
NM_207042.1 317 Nonsense Mutation CAG,TAG Q117* NP_996925.1
NM_207043.1 317 Intron NP_996926.1
NM_207044.1 317 Intron NP_996927.1
NM_207045.1 317 Nonsense Mutation CAG,TAG Q113* NP_996928.1
NM_207046.1 317 Nonsense Mutation CAG,TAG Q97* NP_996929.1
NM_207047.1 317 Intron NP_996930.1
NM_207168.1 317 Intron NP_997051.1

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