Product Details

SNP ID

rs72550758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59855881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAATGCTTATACCTGAAGCAGAGA[T/C]GCAAGAAGAGTCTTTGTTAATATCC

Phenotype

MIM: 189905

Polymorphism

T/C, 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	1023	Missense Mutation	ATC,GTC	I309V	NP_001053.2

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