Product Details

SNP ID

rs202046870

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4504539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGCTGTAGGCCCTCCAGCAGCT[A/G]CTCTAACCCCTGCCAAGCCTGGTGC

Phenotype

MIM: 613247

Polymorphism

A/G, Transition 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	5955	Nonsense Mutation	CAG,TAG	Q1332*	NP_001073869.1
XM_006722866.2	5955	Nonsense Mutation	CAG,TAG	Q1347*	XP_006722929.1
XM_006722868.3	5955	Nonsense Mutation	CAG,TAG	Q1346*	XP_006722931.1
XM_011528233.2	5955	Nonsense Mutation	CAG,TAG	Q1407*	XP_011526535.1
XM_017027192.1	5955	Nonsense Mutation	CAG,TAG	Q1408*	XP_016882681.1
XM_017027193.1	5955	Nonsense Mutation	CAG,TAG	Q1408*	XP_016882682.1
XM_017027194.1	5955	Nonsense Mutation	CAG,TAG	Q1408*	XP_016882683.1

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