Product Details

SNP ID
rs111798412
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27434729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCAACTTTGTTCCAGGCATGGA[A/G]GCGTTGGTGCACACAAATCCTCTCT
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
There are no transcripts associated with this gene.

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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321357.1 1365 Missense Mutation AAG,AGG K178R NP_001308286.1
NM_001321358.1 1365 Missense Mutation AAG,AGG K178R NP_001308287.1
NM_001321359.1 1365 Missense Mutation AAG,AGG K178R NP_001308288.1
NM_001321361.1 1365 Missense Mutation AAG,AGG K178R NP_001308290.1
NM_001321362.1 1365 Missense Mutation AAG,AGG K178R NP_001308291.1
NM_001321363.1 1365 Missense Mutation AAG,AGG K146R NP_001308292.1
NM_013392.3 1365 Missense Mutation AAG,AGG K178R NP_037524.1

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