Product Details

SNP ID

rs150455507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:42693095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCACCTGTGAGTAGCAGGCGCC[C/G]GGCAACCAGCTCTGTGAATTTGAGG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020707.3	1588	Missense Mutation	CGG,GGG	R458G	NP_065758.3
XM_006713274.2	1588	Missense Mutation	CGG,GGG	R458G	XP_006713337.1
XM_006713275.2	1588	Missense Mutation	CGG,GGG	R393G	XP_006713338.1
XM_011533969.2	1588	Missense Mutation	CGG,GGG	R481G	XP_011532271.1
XM_011533970.2	1588	Missense Mutation	CGG,GGG	R416G	XP_011532272.1
XM_017006935.1	1588	Missense Mutation	CGG,GGG	R481G	XP_016862424.1
XM_017006936.1	1588	Missense Mutation	CGG,GGG	R458G	XP_016862425.1
XM_017006937.1	1588	Missense Mutation	CGG,GGG	R393G	XP_016862426.1
XM_017006938.1	1588	Missense Mutation	CGG,GGG	R393G	XP_016862427.1

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	1588	Intron			NP_689606.2

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