Product Details

SNP ID

rs115489250

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:123645843 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGATGTCCAGGTGTCCGTCTCGG[A/G]GTCGTAGCAATCGAAGGAGGCGGAG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KLHL38 PubMed Links

Gene Details

Gene

KLHL38

Gene Name

kelch like family member 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081675.2	1887	Missense Mutation	CCC,TCC	P548S	NP_001075144.2
XM_005250901.4	1887	Missense Mutation	CCC,TCC	P548S	XP_005250958.1

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