Product Details

SNP ID

rs191277814

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20574386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGCCAGTTTTTCCTAGGTACAA[A/G]TGATGCAAAATGTGCACCTGGCTCC

Phenotype

MIM: 600595

Polymorphism

A/G, Transition 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	1156	Missense Mutation	ATG,GTG	M1V	NP_001305420.1
NM_001318493.1	1156	Missense Mutation	ATG,GTG	M10V	NP_001305422.1
NM_006531.4	1156	Missense Mutation	ATG,GTG	M1V	NP_006522.2
NM_175605.4	1156	Missense Mutation	ATG,GTG	M10V	NP_783195.2
XM_005266553.2	1156	Missense Mutation	ATG,GTG	M10V	XP_005266610.1
XM_006719870.3	1156	Missense Mutation	ATG,GTG	M1V	XP_006719933.1
XM_011535241.2	1156	Missense Mutation	ATG,GTG	M10V	XP_011533543.1
XM_011535242.1	1156	Missense Mutation	ATG,GTG	M1V	XP_011533544.1
XM_011535243.1	1156	Missense Mutation	ATG,GTG	M1V	XP_011533545.1
XM_017020757.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876246.1
XM_017020758.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876247.1
XM_017020759.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876248.1
XM_017020760.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876249.1
XM_017020761.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876250.1
XM_017020762.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876251.1
XM_017020763.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876252.1
XM_017020764.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876253.1
XM_017020765.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876254.1
XM_017020766.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876255.1
XM_017020767.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876256.1
XM_017020768.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876257.1
XM_017020769.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876258.1
XM_017020770.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876259.1
XM_017020771.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876260.1
XM_017020772.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876261.1
XM_017020773.1	1156	Missense Mutation	ATG,GTG	M1V	XP_016876262.1
XM_017020774.1	1156	UTR 5			XP_016876263.1
XM_017020775.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876264.1
XM_017020776.1	1156	Missense Mutation	ATG,GTG	M10V	XP_016876265.1

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