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SNP ID

rs140685208

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41771107 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGCTGGGCTTGGCTTTCCCACA[A/C]AGGGGGCAGTGGGGGCAGGTTCTCA

Phenotype

MIM: 607744 MIM: 611389

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FRS3 PubMed Links

Gene Details

Gene

FRS3

Gene Name

fibroblast growth factor receptor substrate 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006653.4	2101	Missense Mutation	GTG,TTG	V331L	NP_006644.1
XM_011514254.2	2101	Missense Mutation	GTG,TTG	V331L	XP_011512556.1
XM_011514255.2	2101	Missense Mutation	GTG,TTG	V331L	XP_011512557.1
XM_017010193.1	2101	Missense Mutation	GTG,TTG	V294L	XP_016865682.1

Gene

PRICKLE4

Gene Name

prickle planar cell polarity protein 4

There are no transcripts associated with this gene.

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