Product Details

SNP ID

rs137964402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:46907902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATGCATTTTGAAGTAATGGAGCT[A/G]CAATTCTTGTGGCGACATCTCCGCC

Phenotype

MIM: 607788 MIM: 609332

Polymorphism

A/G, Transition 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	355	Intron			NP_001164977.1
NM_001171507.2	355	Nonsense Mutation	CAG,TAG	Q73*	NP_001164978.1
NM_001171508.2	355	Nonsense Mutation	CAG,TAG	Q73*	NP_001164979.1
NM_001171509.2	355	Intron			NP_001164980.1
NM_001171510.2	355	Intron			NP_001164981.1
NM_001171511.2	355	Nonsense Mutation	CAG,TAG	Q54*	NP_001164982.1
NM_139279.5	355	Intron			NP_644808.1

Gene

TTC7A

Gene Name

tetratricopeptide repeat domain 7A

There are no transcripts associated with this gene.

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