Product Details

SNP ID
rs140496127
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27443457 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGTCTGCAGGGGAGGCTGCTCT[A/G]TCTGGTTACTGCTGTGTGGCTGCAC
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_015662.2 587 Intron NP_056477.1
XM_005264254.1 587 Intron XP_005264311.1
XM_006711986.3 587 Intron XP_006712049.1
XM_006711987.1 587 Intron XP_006712050.1
XM_011532757.2 587 Intron XP_011531059.1
XM_011532758.1 587 Intron XP_011531060.1
XM_011532759.2 587 Intron XP_011531061.1
XM_011532760.2 587 Intron XP_011531062.1
XM_017003790.1 587 Intron XP_016859279.1
XM_017003791.1 587 Intron XP_016859280.1
XM_017003792.1 587 Intron XP_016859281.1
XM_017003793.1 587 Intron XP_016859282.1
XM_017003794.1 587 Intron XP_016859283.1
XM_017003795.1 587 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_001168364.1 587 Silent Mutation CTA,CTG L180L NP_001161836.1
NM_001321325.1 587 Silent Mutation CTA,CTG L180L NP_001308254.1
NM_173853.3 587 Silent Mutation CTA,CTG L180L NP_776252.2
Gene
NRBP1
Gene Name
nuclear receptor binding protein 1
There are no transcripts associated with this gene.

View Full Product Details