Product Details

SNP ID: rs201946800
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:177402669 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGGAGAGGAACGGTACCTGCGCCT[C/T]CTGCAGGAAGCTGGCATATTCCTCC
Phenotype: MIM: 610619 MIM: 612812 MIM: 182309
Polymorphism: C/T, Transition 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	1610	Missense Mutation	AAG,GAG	K521E	NP_000496.2
XM_011534462.2	1610	Missense Mutation	AAG,GAG	K409E	XP_011532764.1

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	1610	Intron			NP_001161051.1
NM_003052.4	1610	Intron			NP_003043.3
XM_005265975.1	1610	Intron			XP_005266032.1
XM_017009773.1	1610	Intron			XP_016865262.1
XM_017009774.1	1610	Intron			XP_016865263.1
XM_017009775.1	1610	Intron			XP_016865264.1

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