Product Details

SNP ID
rs184475643
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27443427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCTTGGCTCTCTGGATCCCTTC[G/T]TTGCTCATGTCTGCAGGGGAGGCTG
Phenotype
MIM: 607386 MIM: 606010
Polymorphism
G/T, 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_015662.2 557 Intron NP_056477.1
XM_005264254.1 557 Intron XP_005264311.1
XM_006711986.3 557 Intron XP_006712049.1
XM_006711987.1 557 Intron XP_006712050.1
XM_011532757.2 557 Intron XP_011531059.1
XM_011532758.1 557 Intron XP_011531060.1
XM_011532759.2 557 Intron XP_011531061.1
XM_011532760.2 557 Intron XP_011531062.1
XM_017003790.1 557 Intron XP_016859279.1
XM_017003791.1 557 Intron XP_016859280.1
XM_017003792.1 557 Intron XP_016859281.1
XM_017003793.1 557 Intron XP_016859282.1
XM_017003794.1 557 Intron XP_016859283.1
XM_017003795.1 557 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_001168364.1 557 Silent Mutation TCG,TCT S170S NP_001161836.1
NM_001321325.1 557 Silent Mutation TCG,TCT S170S NP_001308254.1
NM_173853.3 557 Silent Mutation TCG,TCT S170S NP_776252.2
Gene
NRBP1
Gene Name
nuclear receptor binding protein 1
There are no transcripts associated with this gene.

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