Product Details

SNP ID

rs186020523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27445949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACATCGGTCAGGTCCAAAAAGC[A/G]ATTGAGGAAGATGAATGCCATGTTA

Phenotype

MIM: 607386 MIM: 606010

Polymorphism

A/G, 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	4979	Missense Mutation	CGC,TGC	R1599C	NP_056477.1
XM_005264254.1	4979	Missense Mutation	CGC,TGC	R1577C	XP_005264311.1
XM_006711986.3	4979	Missense Mutation	CGC,TGC	R1578C	XP_006712049.1
XM_006711987.1	4979	Missense Mutation	CGC,TGC	R1599C	XP_006712050.1
XM_011532757.2	4979	Missense Mutation	CGC,TGC	R1372C	XP_011531059.1
XM_011532758.1	4979	Intron			XP_011531060.1
XM_011532759.2	4979	Missense Mutation	CGC,TGC	R1079C	XP_011531061.1
XM_011532760.2	4979	Missense Mutation	CGC,TGC	R954C	XP_011531062.1
XM_017003790.1	4979	Missense Mutation	CGC,TGC	R1556C	XP_016859279.1
XM_017003791.1	4979	Missense Mutation	CGC,TGC	R1372C	XP_016859280.1
XM_017003792.1	4979	Intron			XP_016859281.1
XM_017003793.1	4979	Missense Mutation	CGC,TGC	R978C	XP_016859282.1
XM_017003794.1	4979	Missense Mutation	CGC,TGC	R978C	XP_016859283.1
XM_017003795.1	4979	Missense Mutation	CGC,TGC	R910C	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	4979	Intron			NP_001161836.1
NM_001321325.1	4979	Intron			NP_001308254.1
NM_173853.3	4979	Intron			NP_776252.2

Gene

NRBP1

Gene Name

nuclear receptor binding protein 1

There are no transcripts associated with this gene.

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