Product Details

SNP ID

rs144953342

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:101130444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACAAGGGCATGGCCCCCGCCCTC[C/T]GGCATCTGTACAAGGAGCTCATGGG

Phenotype

MIM: 173360

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SERPINE1 PubMed Links

Gene Details

Gene

SERPINE1

Gene Name

serpin family E member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000602.4	454	Missense Mutation	CGG,TGG	R99W	NP_000593.1
XM_017012260.1	454	Missense Mutation	CGG,TGG	R99W	XP_016867749.1

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