Product Details

SNP ID

rs142285083

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:42686031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCAACTGCTTGGCCGTCTTCC[C/G]TCTCGGCCTCCTGCTCGACTGCGCG

Phenotype

MIM: 608116 MIM: 615340

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HHATL PubMed Links

Gene Details

Gene

HHATL

Gene Name

hedgehog acyltransferase-like

There are no transcripts associated with this gene.

Gene

KLHL40

Gene Name

kelch like family member 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152393.3	513	Missense Mutation	CCT,CGT	P138R	NP_689606.2

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