Product Details

SNP ID

rs139595894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59856030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTGGCAATTCCAGTCATTTTCA[C/T]TATAATAGTCTGATGATACAAAGAG

Phenotype

MIM: 189905

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TCN1 PubMed Links

Gene Details

Gene

TCN1

Gene Name

transcobalamin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001062.3	874	Missense Mutation	AAT,AGT	N259S	NP_001053.2

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