Product Details

SNP ID

rs201400089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49417655 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCTGGACGACTGTACTCGCAG[A/G]GCACATAACCCATCGCCACATTCTT

Phenotype

MIM: 238310 MIM: 611516 MIM: 165390 MIM: 600690

Polymorphism

A/G, 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	1193	Missense Mutation	CCC,CTC	P366L	NP_000472.2
NM_001164710.1	1193	Missense Mutation	CCC,CTC	P322L	NP_001158182.1
NM_001164711.1	1193	Missense Mutation	CCC,CTC	P310L	NP_001158183.1
NM_001164712.1	1193	Missense Mutation	CCC,CTC	P366L	NP_001158184.1

Gene

NICN1

Gene Name

nicolin 1

There are no transcripts associated with this gene.

Gene

RHOA

Gene Name

ras homolog family member A

There are no transcripts associated with this gene.

Gene

TCTA

Gene Name

T-cell leukemia translocation altered

There are no transcripts associated with this gene.

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