Product Details

SNP ID

rs45604437

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:60975636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCCCTTTGCCGAACATCCTCA[A/G]CAGGGTTAGCATCTTTGGAAAAGCT

Phenotype

MIM: 602659 MIM: 616518 MIM: 611023

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MNAT1 PubMed Links

Gene Details

Gene

MNAT1

Gene Name

MNAT1, CDK activating kinase assembly factor

There are no transcripts associated with this gene.

Gene

SLC38A6

Gene Name

solute carrier family 38 member 6

There are no transcripts associated with this gene.

Gene

TRMT5

Gene Name

tRNA methyltransferase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020810.3	1480	Missense Mutation	GCT,GTT	A428V	NP_065861.3
XM_005267916.3	1480	Missense Mutation	GCT,GTT	A456V	XP_005267973.2
XM_011537017.2	1480	Missense Mutation	GCT,GTT	A455V	XP_011535319.1

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