Product Details

SNP ID

rs202181028

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27447576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTAATGAGCGATCAGCAGCATC[A/G]TCTTGAACTCCTCATGGGCTGGAGA

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	4782	Missense Mutation	ACG,ATG	T1533M	NP_056477.1
XM_005264254.1	4782	Missense Mutation	ACG,ATG	T1511M	XP_005264311.1
XM_006711986.3	4782	Missense Mutation	ACG,ATG	T1512M	XP_006712049.1
XM_006711987.1	4782	Missense Mutation	ACG,ATG	T1533M	XP_006712050.1
XM_011532757.2	4782	Missense Mutation	ACG,ATG	T1306M	XP_011531059.1
XM_011532758.1	4782	Intron			XP_011531060.1
XM_011532759.2	4782	Missense Mutation	ACG,ATG	T1013M	XP_011531061.1
XM_011532760.2	4782	Missense Mutation	ACG,ATG	T888M	XP_011531062.1
XM_017003790.1	4782	Missense Mutation	ACG,ATG	T1490M	XP_016859279.1
XM_017003791.1	4782	Missense Mutation	ACG,ATG	T1306M	XP_016859280.1
XM_017003792.1	4782	Intron			XP_016859281.1
XM_017003793.1	4782	Missense Mutation	ACG,ATG	T912M	XP_016859282.1
XM_017003794.1	4782	Missense Mutation	ACG,ATG	T912M	XP_016859283.1
XM_017003795.1	4782	Missense Mutation	ACG,ATG	T844M	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.

View Full Product Details