Product Details

SNP ID

rs112667682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27447858 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGATCAGCCCAGCTATGATAGGCC[C/T]CGGCACAGTTGGTTCCAGGAGAGCT

Phenotype

MIM: 607386 MIM: 606010

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IFT172 PubMed Links

Gene Details

Gene

IFT172

Gene Name

intraflagellar transport 172

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015662.2	4677	Missense Mutation	GAG,GGG	E1498G	NP_056477.1
XM_005264254.1	4677	Missense Mutation	GAG,GGG	E1476G	XP_005264311.1
XM_006711986.3	4677	Missense Mutation	GAG,GGG	E1477G	XP_006712049.1
XM_006711987.1	4677	Missense Mutation	GAG,GGG	E1498G	XP_006712050.1
XM_011532757.2	4677	Missense Mutation	GAG,GGG	E1271G	XP_011531059.1
XM_011532758.1	4677	Intron			XP_011531060.1
XM_011532759.2	4677	Missense Mutation	GAG,GGG	E978G	XP_011531061.1
XM_011532760.2	4677	Missense Mutation	GAG,GGG	E853G	XP_011531062.1
XM_017003790.1	4677	Missense Mutation	GAG,GGG	E1455G	XP_016859279.1
XM_017003791.1	4677	Missense Mutation	GAG,GGG	E1271G	XP_016859280.1
XM_017003792.1	4677	Intron			XP_016859281.1
XM_017003793.1	4677	Missense Mutation	GAG,GGG	E877G	XP_016859282.1
XM_017003794.1	4677	Missense Mutation	GAG,GGG	E877G	XP_016859283.1
XM_017003795.1	4677	Missense Mutation	GAG,GGG	E809G	XP_016859284.1

Gene

KRTCAP3

Gene Name

keratinocyte associated protein 3

There are no transcripts associated with this gene.

Gene

NRBP1

Gene Name

nuclear receptor binding protein 1

There are no transcripts associated with this gene.

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