Product Details

SNP ID

rs140663234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1511027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTGTTGTGGCGGACCTGCTCGG[C/G]GACGGTGCGTGGCAGTGGGAGACCC

Phenotype

MIM: 614620 MIM: 611140

Polymorphism

C/G, Transversion 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	3388	Missense Mutation	CCC,GCC	P1436A	NP_055529.2
XM_005255725.4	3388	Intron			XP_005255782.1
XM_005255726.3	3388	Intron			XP_005255783.1
XM_006720990.3	3388	Missense Mutation	CCC,GCC	P1436A	XP_006721053.1
XM_006720991.3	3388	Missense Mutation	CCC,GCC	P1436A	XP_006721054.1
XM_006720992.3	3388	Missense Mutation	CCC,GCC	P647A	XP_006721055.1
XM_011522766.2	3388	Missense Mutation	CCC,GCC	P1354A	XP_011521068.1
XM_011522767.2	3388	Missense Mutation	CCC,GCC	P1111A	XP_011521069.1
XM_011522769.2	3388	Intron			XP_011521071.1
XM_011522771.2	3388	Intron			XP_011521073.1
XM_011522772.2	3388	Intron			XP_011521074.1
XM_017023910.1	3388	Missense Mutation	CCC,GCC	P1436A	XP_016879399.1
XM_017023911.1	3388	Missense Mutation	CCC,GCC	P831A	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	3388	Intron			NP_057195.2
XM_011522773.2	3388	Intron			XP_011521075.1
XM_011522774.2	3388	Intron			XP_011521076.1
XM_011522775.2	3388	Intron			XP_011521077.1
XM_011522776.2	3388	Intron			XP_011521078.1
XM_011522777.2	3388	Intron			XP_011521079.1
XM_011522778.2	3388	Intron			XP_011521080.1
XM_017023914.1	3388	Intron			XP_016879403.1

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