Product Details

SNP ID

rs139941796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49422416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGGGGAATGCCTGCAGGCGAAAG[C/T]CCAGACGGGCCACCACACTTACAGC

Phenotype

MIM: 238310 MIM: 611516 MIM: 600690

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AMT PubMed Links

Gene Details

Gene

AMT

Gene Name

aminomethyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000481.3	263	Missense Mutation	GAC,GGC	D12G	NP_000472.2
NM_001164710.1	263	Missense Mutation	GAC,GGC	D12G	NP_001158182.1
NM_001164711.1	263	Missense Mutation	GAC,GGC	D12G	NP_001158183.1
NM_001164712.1	263	Missense Mutation	GAC,GGC	D12G	NP_001158184.1

Gene

NICN1

Gene Name

nicolin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032316.3	263	UTR 3			NP_115692.1

Gene

TCTA

Gene Name

T-cell leukemia translocation altered

There are no transcripts associated with this gene.

View Full Product Details