Product Details

SNP ID

rs200893452

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:36762992 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGCTCGTCTGCCGGCCAGGTCT[A/G]TCTTGTTCCCAACTAAAACACCTAC

Phenotype

MIM: 615870

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IFT27 PubMed Links

Gene Details

Gene

IFT27

Gene Name

intraflagellar transport 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177701.2	804	Missense Mutation	ACA,ATA	T125I	NP_001171172.1
NM_006860.4	804	Missense Mutation	ACA,ATA	T124I	NP_006851.1
XM_006724106.2	804	Missense Mutation	ACA,ATA	T125I	XP_006724169.1
XM_017028540.1	804	Missense Mutation	ACA,ATA	T84I	XP_016884029.1

Gene

LOC105373021

Gene Name

uncharacterized LOC105373021

There are no transcripts associated with this gene.

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