Product Details

SNP ID

rs144181716

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:58353114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGGAAGTCTGGAGTCTCCAGGT[A/G]GGCCTGGCACGTCAGCGTCACATTG

Phenotype

MIM: 138670

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

A1BG PubMed Links

Gene Details

Gene

A1BG

Gene Name

alpha-1-B glycoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130786.3	216	Missense Mutation	CAC,TAC	H52Y	NP_570602.2

Gene

A1BG-AS1

Gene Name

A1BG antisense RNA 1

There are no transcripts associated with this gene.

Gene

LOC100419840

Gene Name

zinc finger protein 446 pseudogene

There are no transcripts associated with this gene.

Gene

LOC105372483

Gene Name

uncharacterized LOC105372483

There are no transcripts associated with this gene.

Gene

ZNF497

Gene Name

zinc finger protein 497

There are no transcripts associated with this gene.

View Full Product Details