Product Details

SNP ID
rs117073283
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:94643357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTGGAGTAGGGACTTCCTTCTGT[C/G]TCTGTACTGATGGGCAGCTTCATGT
Phenotype
MIM: 612959
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ESRP1 PubMed Links

Gene Details

Gene
ESRP1
Gene Name
epithelial splicing regulatory protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001034915.2 499 Missense Mutation CTC,GTC L106V NP_001030087.2
NM_001122825.1 499 Missense Mutation CTC,GTC L106V NP_001116297.1
NM_001122826.1 499 Missense Mutation CTC,GTC L106V NP_001116298.1
NM_001122827.1 499 Missense Mutation CTC,GTC L106V NP_001116299.1
NM_017697.3 499 Missense Mutation CTC,GTC L106V NP_060167.2
XM_005250991.3 499 Missense Mutation CTC,GTC L106V XP_005251048.1
XM_005250992.3 499 Missense Mutation CTC,GTC L106V XP_005251049.1
Gene
LOC100288748
Gene Name
uncharacterized LOC100288748
There are no transcripts associated with this gene.

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