Product Details

SNP ID

rs121909554

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:173904011 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCACCCTGTTGGGGTTTAGCGAAC[G/A]GCCAGCAATCACAACAGCGGTACTT

Phenotype

MIM: 107300

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

SERPINC1 PubMed Links

Gene Details

Gene

SERPINC1

Gene Name

serpin family C member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000488.3	1392	Missense Mutation	CGT,TGT	R425C	NP_000479.1
XM_005245198.3	1392	Missense Mutation	CGT,TGT	R377C	XP_005245255.1

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