Product Details

SNP ID

rs201840472

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27445751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAACCCTGTGCCCTTACCGGTAC[A/C]TGCTGCTTAGCTGGGAGTGGCACCT

Phenotype

MIM: 607386 MIM: 606010

Polymorphism

A/C, 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	5092	Missense Mutation	CAG,CAT	Q1636H	NP_056477.1
XM_005264254.1	5092	Missense Mutation	CAG,CAT	Q1614H	XP_005264311.1
XM_006711986.3	5092	Missense Mutation	CAG,CAT	Q1615H	XP_006712049.1
XM_006711987.1	5092	Intron			XP_006712050.1
XM_011532757.2	5092	Missense Mutation	CAG,CAT	Q1409H	XP_011531059.1
XM_011532758.1	5092	Intron			XP_011531060.1
XM_011532759.2	5092	Missense Mutation	CAG,CAT	Q1116H	XP_011531061.1
XM_011532760.2	5092	Missense Mutation	CAG,CAT	Q991H	XP_011531062.1
XM_017003790.1	5092	Missense Mutation	CAG,CAT	Q1593H	XP_016859279.1
XM_017003791.1	5092	Missense Mutation	CAG,CAT	Q1409H	XP_016859280.1
XM_017003792.1	5092	Intron			XP_016859281.1
XM_017003793.1	5092	Missense Mutation	CAG,CAT	Q1015H	XP_016859282.1
XM_017003794.1	5092	Missense Mutation	CAG,CAT	Q1015H	XP_016859283.1
XM_017003795.1	5092	Missense Mutation	CAG,CAT	Q947H	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	5092	Intron			NP_001161836.1
NM_001321325.1	5092	Intron			NP_001308254.1
NM_173853.3	5092	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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