Product Details

SNP ID

rs202129528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1511128 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGCCAAGGGAAGCCGCCGCCGC[A/G]TCTCCTCCAGGAATCTGTAGGCCTG

Phenotype

MIM: 614620 MIM: 611140

Polymorphism

A/G, 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	3287	Missense Mutation	ACG,ATG	T1402M	NP_055529.2
XM_005255725.4	3287	Intron			XP_005255782.1
XM_005255726.3	3287	Intron			XP_005255783.1
XM_006720990.3	3287	Missense Mutation	ACG,ATG	T1402M	XP_006721053.1
XM_006720991.3	3287	Missense Mutation	ACG,ATG	T1402M	XP_006721054.1
XM_006720992.3	3287	Missense Mutation	ACG,ATG	T613M	XP_006721055.1
XM_011522766.2	3287	Missense Mutation	ACG,ATG	T1320M	XP_011521068.1
XM_011522767.2	3287	Missense Mutation	ACG,ATG	T1077M	XP_011521069.1
XM_011522769.2	3287	Intron			XP_011521071.1
XM_011522771.2	3287	Intron			XP_011521073.1
XM_011522772.2	3287	Intron			XP_011521074.1
XM_017023910.1	3287	Missense Mutation	ACG,ATG	T1402M	XP_016879399.1
XM_017023911.1	3287	Missense Mutation	ACG,ATG	T797M	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	3287	Intron			NP_057195.2
XM_011522773.2	3287	Intron			XP_011521075.1
XM_011522774.2	3287	Intron			XP_011521076.1
XM_011522775.2	3287	Intron			XP_011521077.1
XM_011522776.2	3287	Intron			XP_011521078.1
XM_011522777.2	3287	Intron			XP_011521079.1
XM_011522778.2	3287	Intron			XP_011521080.1
XM_017023914.1	3287	Intron			XP_016879403.1

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