Product Details

SNP ID
rs75136682
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4504586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCACACCCTCGCGGCTCTGCACC[A/C]GCCGCTCTGCGGGCAGCTCCTCTAC
Phenotype
MIM: 613247
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HDGFRP2 PubMed Links

Gene Details

Gene
HDGFRP2
Gene Name
hepatoma-derived growth factor-related protein 2
There are no transcripts associated with this gene.

Gene
PLIN4
Gene Name
perilipin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080400.1 5908 Missense Mutation CGG,CTG R1316L NP_001073869.1
XM_006722866.2 5908 Missense Mutation CGG,CTG R1331L XP_006722929.1
XM_006722868.3 5908 Missense Mutation CGG,CTG R1330L XP_006722931.1
XM_011528233.2 5908 Missense Mutation CGG,CTG R1391L XP_011526535.1
XM_017027192.1 5908 Missense Mutation CGG,CTG R1392L XP_016882681.1
XM_017027193.1 5908 Missense Mutation CGG,CTG R1392L XP_016882682.1
XM_017027194.1 5908 Missense Mutation CGG,CTG R1392L XP_016882683.1

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