Product Details

SNP ID: rs200794627
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:28328721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTCTACTTTACACAAAGCTTCATA[C/T]TCAACCCGATACCTGAAAAACAAAA
Phenotype: MIM: 614394 MIM: 612912 MIM: 191161
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: IFT20 PubMed Links

Gene Details

Gene: IFT20
Gene Name: intraflagellar transport 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267774.1	482	Silent Mutation	GAA,GAG	E136E	NP_001254703.1
NM_001267775.1	482	Silent Mutation	GAA,GAG	E110E	NP_001254704.1
NM_001267776.1	482	Silent Mutation	GAA,GAG	E110E	NP_001254705.1
NM_001267777.1	482	Intron			NP_001254706.1
NM_001267778.1	482	UTR 3			NP_001254707.1
NM_174887.3	482	UTR 3			NP_777547.1

Gene: TMEM97
Gene Name: transmembrane protein 97

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014573.2	482	Intron			NP_055388.2
XM_005257965.3	482	Intron			XP_005258022.1

Gene: TNFAIP1
Gene Name: TNF alpha induced protein 1

There are no transcripts associated with this gene.

View Full Product Details