Product Details

SNP ID
rs149614625
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27444503 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGATGAATTTCAGCACGTCCTGGC[A/G]CACTGGGCTGTGGGAGGTCTGTGAG
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 5363 Missense Mutation CGC,TGC R1727C NP_056477.1
XM_005264254.1 5363 Missense Mutation CGC,TGC R1705C XP_005264311.1
XM_006711986.3 5363 Missense Mutation CGC,TGC R1706C XP_006712049.1
XM_006711987.1 5363 Missense Mutation CGC,TGC R1694C XP_006712050.1
XM_011532757.2 5363 Missense Mutation CGC,TGC R1500C XP_011531059.1
XM_011532758.1 5363 Intron XP_011531060.1
XM_011532759.2 5363 Missense Mutation CGC,TGC R1207C XP_011531061.1
XM_011532760.2 5363 Missense Mutation CGC,TGC R1082C XP_011531062.1
XM_017003790.1 5363 Missense Mutation CGC,TGC R1684C XP_016859279.1
XM_017003791.1 5363 Missense Mutation CGC,TGC R1500C XP_016859280.1
XM_017003792.1 5363 Intron XP_016859281.1
XM_017003793.1 5363 Missense Mutation CGC,TGC R1106C XP_016859282.1
XM_017003794.1 5363 Missense Mutation CGC,TGC R1106C XP_016859283.1
XM_017003795.1 5363 Missense Mutation CGC,TGC R1038C 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 5363 Intron NP_001161836.1
NM_001321325.1 5363 Intron NP_001308254.1
NM_173853.3 5363 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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