Product Details

SNP ID
rs141127387
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55678552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCGGTGACCTGCCAGCACCTGCC[A/G]CAGCCTTCGTCCGGGAGTCGCCCCA
Phenotype
MIM: 607262 MIM: 191318
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPN1 PubMed Links

Gene Details

Gene
EPN1
Gene Name
epsin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130071.1 276 Silent Mutation CCA,CCG P86P NP_001123543.1
NM_001130072.1 276 UTR 5 NP_001123544.1
NM_013333.3 276 UTR 5 NP_037465.2
XM_005258829.2 276 UTR 5 XP_005258886.1
XM_005258830.2 276 UTR 5 XP_005258887.1
XM_011526880.1 276 UTR 5 XP_011525182.1
XM_011526881.1 276 UTR 5 XP_011525183.1
XM_017026722.1 276 UTR 5 XP_016882211.1
XM_017026723.1 276 Silent Mutation CCA,CCG P35P XP_016882212.1
XM_017026724.1 276 Silent Mutation CCA,CCG P35P XP_016882213.1
XM_017026725.1 276 Silent Mutation CCA,CCG P35P XP_016882214.1
Gene
U2AF2
Gene Name
U2 small nuclear RNA auxiliary factor 2
There are no transcripts associated with this gene.

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