Product Details

SNP ID

rs1052530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50378184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCGAAGAGGAACCAGAGCGCAAG[A/C]GAAAGAAGGGCCCAGCCCCGAAGAT

Phenotype

MIM: 605631 MIM: 600380 MIM: 174761

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NAPSA PubMed Links

Gene Details

Gene

NAPSA

Gene Name

napsin A aspartic peptidase

There are no transcripts associated with this gene.

Gene

NR1H2

Gene Name

nuclear receptor subfamily 1 group H member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256647.1	498	Intron			NP_001243576.1
NM_007121.5	498	Silent Mutation	AGA,CGA	R73R	NP_009052.3

Gene

POLD1

Gene Name

DAN polymerase delta 1, catalytic subunit

There are no transcripts associated with this gene.

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