Product Details

SNP ID

rs115233072

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1816898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACCAGTCTTTGAAAGTTCCTTC[C/T]TGATCTCCTGCAAGTCCTAATAAAA

Phenotype

MIM: 134934 MIM: 604407

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FGFR3 PubMed Links

Additional Information

For this assay, SNP(s) [rs9328763] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1762	Missense Mutation			NP_036450.1
XM_006713884.1	1762	Missense Mutation			XP_006713947.1
XM_017008187.1	1762	Intron			XP_016863676.1

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