Product Details

SNP ID
rs144856248
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177400551 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGCGCTGGTCCCGCAGCACTGCA[C/T]TGATGTAGACCTTCCAGTCGCCCAT
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
There are no transcripts associated with this gene.

Gene
PFN3
Gene Name
profilin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001029886.2 86 Missense Mutation AAT,AGT N9S NP_001025057.1
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 86 Intron NP_001161051.1
NM_003052.4 86 Intron NP_003043.3
XM_005265975.1 86 Intron XP_005266032.1
XM_017009773.1 86 Intron XP_016865262.1
XM_017009774.1 86 Intron XP_016865263.1
XM_017009775.1 86 Intron XP_016865264.1

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