Product Details

SNP ID

hCV11926450

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:113105851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGAGATTTCATCATGGTCTCC[C/T]AGGCCCTCAGGCTCCTCTGCCTTCT

Phenotype

MIM: 613878 MIM: 609499

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

F7 PubMed Links

Gene Details

Gene

F7

Gene Name

coagulation factor VII

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000131.4	64	Nonsense Mutation	CAG,TAG	Q4*	NP_000122.1
NM_001267554.1	64	Nonsense Mutation	CAG,TAG	Q4*	NP_001254483.1
NM_019616.3	64	Nonsense Mutation	CAG,TAG	Q4*	NP_062562.1

Gene

MCF2L

Gene Name

MCF.2 cell line derived transforming sequence like

There are no transcripts associated with this gene.

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