Product Details

SNP ID: rs36040764
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:50548657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGGAGGCGCCGGGGGAGGGGGGCA[A/G]CCCTGCCGGCCGCAGCGGGGCGCTC
Phenotype: MIM: 615775
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: KLHDC7B PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138433.3	625	Missense Mutation	AAC,AGC	N164S	NP_612442.2

There are no transcripts associated with this gene.