Product Details

SNP ID
rs141757802
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42693715 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAATGACCACAGGTAGACAATGT[A/C]ACAAGGCCCAAGCCACAGTGTGGTG
Phenotype
MIM: 608116 MIM: 615340
Polymorphism
A/C, 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 1366 Missense Mutation NP_065758.3
XM_006713274.2 1366 Missense Mutation XP_006713337.1
XM_006713275.2 1366 Missense Mutation XP_006713338.1
XM_011533969.2 1366 Missense Mutation XP_011532271.1
XM_011533970.2 1366 Missense Mutation XP_011532272.1
XM_017006935.1 1366 Missense Mutation XP_016862424.1
XM_017006936.1 1366 Missense Mutation XP_016862425.1
XM_017006937.1 1366 Missense Mutation XP_016862426.1
XM_017006938.1 1366 Missense Mutation XP_016862427.1
Gene
KLHL40
Gene Name
kelch like family member 40
There are no transcripts associated with this gene.

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