Product Details

SNP ID

rs140366557

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:75988930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCAACAGGAGTCAGCGCAGGCC[A/G]AGAATCACCTCAATGGCAAGAATTC

Phenotype

MIM: 614068 MIM: 190230

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IFT43 PubMed Links

Gene Details

Gene

IFT43

Gene Name

intraflagellar transport 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102564.1	134	Missense Mutation	AAG,GAG	K34E	NP_001096034.1
NM_001255995.1	134	Missense Mutation	AAG,GAG	K34E	NP_001242924.1
NM_052873.2	134	Missense Mutation	AAG,GAG	K34E	NP_443105.2

Gene

TGFB3

Gene Name

transforming growth factor beta 3

There are no transcripts associated with this gene.

View Full Product Details