Product Details

SNP ID

hCV27540439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:113110785 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCGGCCGGGCTCCCTGGAGAGG[A/G]AGTGCAAGGAGGAGCAGTGCTCCTT

Phenotype

MIM: 613878

Polymorphism

A/G, 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	214	Missense Mutation	AAG,GAG	K76E	NP_000122.1
NM_001267554.1	214	Intron			NP_001254483.1
NM_019616.3	214	Missense Mutation	AAG,GAG	K54E	NP_062562.1

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