Product Details

SNP ID: rs200651326
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:27442725 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCGCGGCGCTGTCACGCCGGAGTAC[A/C]CCGTAGCCAATGTCATCTCTGTCGG
Phenotype: MIM: 607386 MIM: 606010
Polymorphism: A/C, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168364.1	222	Missense Mutation	ACC,CCC	T59P	NP_001161836.1
NM_001321325.1	222	Missense Mutation	ACC,CCC	T59P	NP_001308254.1
NM_173853.3	222	Missense Mutation	ACC,CCC	T59P	NP_776252.2

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	222	Intron			NP_001308286.1
NM_001321358.1	222	Intron			NP_001308287.1
NM_001321359.1	222	Intron			NP_001308288.1
NM_001321361.1	222	Intron			NP_001308290.1
NM_001321362.1	222	Intron			NP_001308291.1
NM_001321363.1	222	Intron			NP_001308292.1
NM_013392.3	222	Intron			NP_037524.1

View Full Product Details