Product Details

SNP ID

rs201642067

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1511024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATGCTGTTGTGGCGGACCTGCT[C/T]GGGGACGGTGCGTGGCAGTGGGAGA

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	3391	Missense Mutation	AAG,GAG	K1437E	NP_055529.2
XM_005255725.4	3391	Intron			XP_005255782.1
XM_005255726.3	3391	Intron			XP_005255783.1
XM_006720990.3	3391	Missense Mutation	AAG,GAG	K1437E	XP_006721053.1
XM_006720991.3	3391	Missense Mutation	AAG,GAG	K1437E	XP_006721054.1
XM_006720992.3	3391	Missense Mutation	AAG,GAG	K648E	XP_006721055.1
XM_011522766.2	3391	Missense Mutation	AAG,GAG	K1355E	XP_011521068.1
XM_011522767.2	3391	Missense Mutation	AAG,GAG	K1112E	XP_011521069.1
XM_011522769.2	3391	Intron			XP_011521071.1
XM_011522771.2	3391	Intron			XP_011521073.1
XM_011522772.2	3391	Intron			XP_011521074.1
XM_017023910.1	3391	Missense Mutation	AAG,GAG	K1437E	XP_016879399.1
XM_017023911.1	3391	Missense Mutation	AAG,GAG	K832E	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	3391	Intron			NP_057195.2
XM_011522773.2	3391	Intron			XP_011521075.1
XM_011522774.2	3391	Intron			XP_011521076.1
XM_011522775.2	3391	Intron			XP_011521077.1
XM_011522776.2	3391	Intron			XP_011521078.1
XM_011522777.2	3391	Intron			XP_011521079.1
XM_011522778.2	3391	Intron			XP_011521080.1
XM_017023914.1	3391	Intron			XP_016879403.1

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