Product Details

SNP ID

rs144048032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28339714 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCAGTGGGCGCATGGAGGTGCTG[A/T]CCGACAAAGAAGGTGAGGCACTGGG

Phenotype

MIM: 614394 MIM: 611519 MIM: 191161

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

IFT20 PubMed Links

Gene Details

Gene

IFT20

Gene Name

intraflagellar transport 20

There are no transcripts associated with this gene.

Gene

POLDIP2

Gene Name

DNA polymerase delta interacting protein 2

There are no transcripts associated with this gene.

Gene

TNFAIP1

Gene Name

TNF alpha induced protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021137.4	598	Missense Mutation	ACC,TCC	T65S	NP_066960.1
XM_017024993.1	598	Missense Mutation	ACC,TCC	T65S	XP_016880482.1

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