Product Details

SNP ID

rs141459890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13105292 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTTAAACCTCTTGCAAGGAAAT[C/G]TCTTGAGCCGGGCAGCCCGCTGGGC

Phenotype

MIM: 151440 MIM: 164005 MIM: 611669

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LYL1 PubMed Links

Gene Details

Gene

LYL1

Gene Name

LYL1, basic helix-loop-helix family member

There are no transcripts associated with this gene.

Gene

NFIX

Gene Name

nuclear factor I X

There are no transcripts associated with this gene.

Gene

TRMT1

Gene Name

tRNA methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136035.2	2366	Missense Mutation	ACA,AGA	T603R	NP_001129507.1
NM_001142554.1	2366	Missense Mutation	ACA,AGA	T574R	NP_001136026.1
NM_017722.3	2366	Missense Mutation	ACA,AGA	T603R	NP_060192.1
XM_006722793.2	2366	Missense Mutation	ACA,AGA	T389R	XP_006722856.1
XM_011528124.1	2366	Missense Mutation	ACA,AGA	T567R	XP_011526426.1
XM_011528125.1	2366	Missense Mutation	ACA,AGA	T389R	XP_011526427.1
XM_017026944.1	2366	Missense Mutation	ACA,AGA	T603R	XP_016882433.1
XM_017026945.1	2366	Missense Mutation	ACA,AGA	T574R	XP_016882434.1
XM_017026946.1	2366	Missense Mutation	ACA,AGA	T360R	XP_016882435.1
XM_017026947.1	2366	Missense Mutation	ACA,AGA	T342R	XP_016882436.1

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