Product Details

SNP ID

rs193102233

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:68231279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGGAACAGGGGACCACCTCCACG[G/T]AGCGCTCCTTCATCACCTTCTTATG

Phenotype

MIM: 612960 MIM: 602698

Polymorphism

G/T, Transversion 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	1698	Missense Mutation	TAC,TCC	Y537S	NP_079215.2
XM_005256153.4	1698	Missense Mutation	TAC,TCC	Y536S	XP_005256210.1
XM_006721273.3	1698	Missense Mutation	TAC,TCC	Y411S	XP_006721336.1
XM_011523338.2	1698	Missense Mutation	TAC,TCC	Y411S	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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