Product Details

SNP ID

rs138599693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20582958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTAAATTTGCGTTTTCATTTTAGG[A/T]ATTGGAGAATGATGCAGCTTTTCAG

Phenotype

MIM: 600595

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

IFT88 PubMed Links

Gene Details

Gene

IFT88

Gene Name

intraflagellar transport 88

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318491.1	1247	Missense Mutation	GAA,GTA	E31V	NP_001305420.1
NM_001318493.1	1247	Missense Mutation	GAA,GTA	E40V	NP_001305422.1
NM_006531.4	1247	Missense Mutation	GAA,GTA	E31V	NP_006522.2
NM_175605.4	1247	Missense Mutation	GAA,GTA	E40V	NP_783195.2
XM_005266553.2	1247	Missense Mutation	GAA,GTA	E40V	XP_005266610.1
XM_006719870.3	1247	Missense Mutation	GAA,GTA	E31V	XP_006719933.1
XM_011535241.2	1247	Missense Mutation	GAA,GTA	E40V	XP_011533543.1
XM_011535242.1	1247	Missense Mutation	GAA,GTA	E31V	XP_011533544.1
XM_011535243.1	1247	Missense Mutation	GAA,GTA	E31V	XP_011533545.1
XM_017020757.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876246.1
XM_017020758.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876247.1
XM_017020759.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876248.1
XM_017020760.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876249.1
XM_017020761.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876250.1
XM_017020762.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876251.1
XM_017020763.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876252.1
XM_017020764.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876253.1
XM_017020765.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876254.1
XM_017020766.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876255.1
XM_017020767.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876256.1
XM_017020768.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876257.1
XM_017020769.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876258.1
XM_017020770.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876259.1
XM_017020771.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876260.1
XM_017020772.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876261.1
XM_017020773.1	1247	Missense Mutation	GAA,GTA	E31V	XP_016876262.1
XM_017020774.1	1247	UTR 5			XP_016876263.1
XM_017020775.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876264.1
XM_017020776.1	1247	Missense Mutation	GAA,GTA	E40V	XP_016876265.1

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