Product Details

SNP ID

hCV27860530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:57600036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTCCAGCTTGCCGACAACCAACT[C/G]AACAACCAATTCAGCCACCAAAATA

Phenotype

MIM: 606860

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SERPING1 PubMed Links

Gene Details

Gene

SERPING1

Gene Name

serpin family G member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000062.2	248	Nonsense Mutation	TCA,TGA	S70*	NP_000053.2
NM_001032295.1	248	Nonsense Mutation	TCA,TGA	S70*	NP_001027466.1

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