Product Details

SNP ID

rs200344265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:68230406 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTCACCTGGTAGGCCTGGAAGA[C/T]GCTGAGCAGATCCTTCATACCAGCC

Phenotype

MIM: 612960 MIM: 602698

Polymorphism

C/T, 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	2135	Missense Mutation	ATC,GTC	I683V	NP_079215.2
XM_005256153.4	2135	Missense Mutation	ATC,GTC	I682V	XP_005256210.1
XM_006721273.3	2135	Missense Mutation	ATC,GTC	I557V	XP_006721336.1
XM_011523338.2	2135	Missense Mutation	ATC,GTC	I557V	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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