Product Details

SNP ID
rs148690211
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:68231278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGGAACAGGGGACCACCTCCAC[A/G]TAGCGCTCCTTCATCACCTTCTTAT
Phenotype
MIM: 612960 MIM: 602698
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ESRP2 PubMed Links

Gene Details

Gene
ESRP2
Gene Name
epithelial splicing regulatory protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024939.2 1699 Silent Mutation TAC,TAT Y537Y NP_079215.2
XM_005256153.4 1699 Silent Mutation TAC,TAT Y536Y XP_005256210.1
XM_006721273.3 1699 Silent Mutation TAC,TAT Y411Y XP_006721336.1
XM_011523338.2 1699 Silent Mutation TAC,TAT Y411Y XP_011521640.1
Gene
MIR6773
Gene Name
microRNA 6773
There are no transcripts associated with this gene.

Gene
NFATC3
Gene Name
nuclear factor of activated T-cells 3
There are no transcripts associated with this gene.

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