Product Details

SNP ID: rs199525863
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:1534376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCACCTCCAACTGGGTGTGCCAGA[C/T]GCTGGAGGATGGGCGCAGGCGCAGC
Phenotype: MIM: 614620 MIM: 611002
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: IFT140 PubMed Links

Gene Details

Gene: IFT140
Gene Name: intraflagellar transport 140

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014714.3	720	Intron			NP_055529.2
XM_005255725.4	720	Intron			XP_005255782.1
XM_005255726.3	720	Intron			XP_005255783.1
XM_006720990.3	720	Intron			XP_006721053.1
XM_006720991.3	720	Intron			XP_006721054.1
XM_006720992.3	720	Intron			XP_006721055.1
XM_011522766.2	720	Intron			XP_011521068.1
XM_011522767.2	720	Intron			XP_011521069.1
XM_011522769.2	720	Intron			XP_011521071.1
XM_011522771.2	720	Intron			XP_011521073.1
XM_011522772.2	720	Intron			XP_011521074.1
XM_017023910.1	720	Intron			XP_016879399.1
XM_017023911.1	720	Intron			XP_016879400.1

Gene: LOC105371047
Gene Name: uncharacterized LOC105371047

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017023923.1	720	Intron			XP_016879412.1

Gene: TMEM204
Gene Name: transmembrane protein 204

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256541.1	720	Missense Mutation	ACG,ATG	T34M	NP_001243470.1
NM_024600.5	720	Missense Mutation	ACG,ATG	T34M	NP_078876.2

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