Product Details

SNP ID: rs181580453
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:39407155 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGGTCTAAAAATCCTAATTTTACTC[C/T]GGTAAATGAAAGTCAGCTGTTTCTC
Phenotype: MIM: 611135
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: KLB PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175737.3	303	Missense Mutation	CCG,CTG	P69L	NP_783864.1

There are no transcripts associated with this gene.