Product Details

SNP ID

rs34684319

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110129102 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGGTACCAAGTGAGTTTCTTCAGG[A/G]TGAAACTGTGGCTGACACCAATAAA

Phenotype

MIM: 605489

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IFT81 PubMed Links

Gene Details

Gene

IFT81

Gene Name

intraflagellar transport 81

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143779.1	641	Missense Mutation	GAT,GGT	D134G	NP_001137251.1
NM_014055.3	641	Missense Mutation	GAT,GGT	D134G	NP_054774.2
NM_031473.3	641	Missense Mutation	GAT,GGT	D134G	NP_113661.2
XM_011538232.2	641	Missense Mutation	GAT,GGT	D134G	XP_011536534.1
XM_017019217.1	641	Missense Mutation	GAT,GGT	D134G	XP_016874706.1
XM_017019218.1	641	UTR 5			XP_016874707.1

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