Product Details

SNP ID

rs138288054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1814435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCCAGTGGTTCTAGCTCTTCA[A/C]CTCTGCGACCTCCTTCTCTGCCTTC

Phenotype

MIM: 134934 MIM: 604407

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FGFR3 PubMed Links

Gene Details

Gene

FGFR3

Gene Name

fibroblast growth factor receptor 3

There are no transcripts associated with this gene.

Gene

LETM1

Gene Name

leucine zipper and EF-hand containing transmembrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012318.2	2211	Missense Mutation	GTG,TTG	V737L	NP_036450.1
XM_006713884.1	2211	Missense Mutation	GTG,TTG	V736L	XP_006713947.1
XM_017008187.1	2211	Intron			XP_016863676.1

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