Product Details

SNP ID

rs145686945

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27443455 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCATGTCTGCAGGGGAGGCTGCT[C/G]TATCTGGTTACTGCTGTGTGGCTGC

Phenotype

MIM: 607386 MIM: 606010

Polymorphism

C/G, Transversion 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	585	Intron			NP_056477.1
XM_005264254.1	585	Intron			XP_005264311.1
XM_006711986.3	585	Intron			XP_006712049.1
XM_006711987.1	585	Intron			XP_006712050.1
XM_011532757.2	585	Intron			XP_011531059.1
XM_011532758.1	585	Intron			XP_011531060.1
XM_011532759.2	585	Intron			XP_011531061.1
XM_011532760.2	585	Intron			XP_011531062.1
XM_017003790.1	585	Intron			XP_016859279.1
XM_017003791.1	585	Intron			XP_016859280.1
XM_017003792.1	585	Intron			XP_016859281.1
XM_017003793.1	585	Intron			XP_016859282.1
XM_017003794.1	585	Intron			XP_016859283.1
XM_017003795.1	585	Intron			XP_016859284.1

Gene

KRTCAP3

Gene Name

keratinocyte associated protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168364.1	585	Missense Mutation	CTA,GTA	L180V	NP_001161836.1
NM_001321325.1	585	Missense Mutation	CTA,GTA	L180V	NP_001308254.1
NM_173853.3	585	Missense Mutation	CTA,GTA	L180V	NP_776252.2

Gene

NRBP1

Gene Name

nuclear receptor binding protein 1

There are no transcripts associated with this gene.

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