Product Details

SNP ID
rs145038434
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27437081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGACAACAGCAGTGGACATCTA[C/T]TCCTTTGGCATGTGTGCACTGGAGG
Phenotype
MIM: 607386 MIM: 606010
Polymorphism
C/T, 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 1612 Silent Mutation TAC,TAT Y260Y NP_001308286.1
NM_001321358.1 1612 Silent Mutation TAC,TAT Y268Y NP_001308287.1
NM_001321359.1 1612 Silent Mutation TAC,TAT Y268Y NP_001308288.1
NM_001321361.1 1612 Silent Mutation TAC,TAT Y268Y NP_001308290.1
NM_001321362.1 1612 Silent Mutation TAC,TAT Y259Y NP_001308291.1
NM_001321363.1 1612 Silent Mutation TAC,TAT Y228Y NP_001308292.1
NM_013392.3 1612 Silent Mutation TAC,TAT Y260Y NP_037524.1

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