Product Details

SNP ID
rs140752976
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:112631475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCATAAGAATTGGTATTCCTCATG[A/T]TGCTCTCCACCAATATGACAGGCTT
Phenotype
MIM: 300566
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
LHFPL1 PubMed Links

Gene Details

Gene
LHFPL1
Gene Name
lipoma HMGIC fusion partner-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178175.3 1151 Missense Mutation AAC,ATC N203I NP_835469.1
XM_011530943.2 1151 Missense Mutation AAC,ATC N226I XP_011529245.1
XM_011530944.2 1151 Missense Mutation AAC,ATC N203I XP_011529246.1
XM_011530946.2 1151 Missense Mutation AAC,ATC N170I XP_011529248.1
XM_017029485.1 1151 Missense Mutation AAC,ATC N226I XP_016884974.1

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