Product Details

SNP ID: rs138789592
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:39407079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAAAGATCTGTCATCCTGTCAGCA[C/T]TTATTCTGCTACGAGCTGTTACTGG
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	227	Missense Mutation	CTT,TTT	L44F	NP_783864.1

There are no transcripts associated with this gene.