Product Details

SNP ID

rs144726977

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1511069 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGACCCAGCCCCCGGTGCACGG[C/T]GTCCACGGCCTGCGGGCTCACGTAG

Phenotype

MIM: 614620 MIM: 611140

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	3346	Missense Mutation	ACC,GCC	T1422A	NP_055529.2
XM_005255725.4	3346	Intron			XP_005255782.1
XM_005255726.3	3346	Intron			XP_005255783.1
XM_006720990.3	3346	Missense Mutation	ACC,GCC	T1422A	XP_006721053.1
XM_006720991.3	3346	Missense Mutation	ACC,GCC	T1422A	XP_006721054.1
XM_006720992.3	3346	Missense Mutation	ACC,GCC	T633A	XP_006721055.1
XM_011522766.2	3346	Missense Mutation	ACC,GCC	T1340A	XP_011521068.1
XM_011522767.2	3346	Missense Mutation	ACC,GCC	T1097A	XP_011521069.1
XM_011522769.2	3346	Intron			XP_011521071.1
XM_011522771.2	3346	Intron			XP_011521073.1
XM_011522772.2	3346	Intron			XP_011521074.1
XM_017023910.1	3346	Missense Mutation	ACC,GCC	T1422A	XP_016879399.1
XM_017023911.1	3346	Missense Mutation	ACC,GCC	T817A	XP_016879400.1

Gene

TELO2

Gene Name

telomere maintenance 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016111.3	3346	Intron			NP_057195.2
XM_011522773.2	3346	Intron			XP_011521075.1
XM_011522774.2	3346	Intron			XP_011521076.1
XM_011522775.2	3346	Intron			XP_011521077.1
XM_011522776.2	3346	Intron			XP_011521078.1
XM_011522777.2	3346	Intron			XP_011521079.1
XM_011522778.2	3346	Intron			XP_011521080.1
XM_017023914.1	3346	Intron			XP_016879403.1

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