Product Details

SNP ID: hCV27531209
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:177402372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACGCCTGGCTTGTTGCGGTCACCAC[T/A]GCCCGATCCCCAGCTGATGATGCCT
Phenotype: MIM: 610619 MIM: 612812 MIM: 182309
Polymorphism: T/A, Transversion substitution
Allele Nomenclature
Literature Links: F12 PubMed Links

Gene Details

Gene: F12
Gene Name: coagulation factor XII

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000505.3	1817	Missense Mutation	AGT,TGT	S590C	NP_000496.2

Gene: PFN3
Gene Name: profilin 3

There are no transcripts associated with this gene.

Gene: SLC34A1
Gene Name: solute carrier family 34 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167579.1	1817	Intron			NP_001161051.1
NM_003052.4	1817	Intron			NP_003043.3

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