Product Details

SNP ID
rs79211648
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:46907820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTGCCAGACCTACCTCCTTATGG[T/A]CATGAGTGATGGCTGTGGAGAGTTC
Phenotype
MIM: 607788 MIM: 609332
Polymorphism
T/A, Transversion substitution
Allele Nomenclature
Literature Links
MCFD2 PubMed Links

Gene Details

Gene
MCFD2
Gene Name
multiple coagulation factor deficiency 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171506.2 437 Intron NP_001164977.1
NM_001171507.2 437 Missense Mutation GAC,GTC D100V NP_001164978.1
NM_001171508.2 437 Missense Mutation GAC,GTC D100V NP_001164979.1
NM_001171509.2 437 Intron NP_001164980.1
NM_001171510.2 437 Intron NP_001164981.1
NM_001171511.2 437 Missense Mutation GAC,GTC D81V NP_001164982.1
NM_139279.5 437 Intron NP_644808.1
Gene
TTC7A
Gene Name
tetratricopeptide repeat domain 7A
There are no transcripts associated with this gene.

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