Product Details

SNP ID

rs149159143

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169812480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGATTTCTTTTTGTGAAACTTGT[A/G]TGATGCTGGCAGGTCATATCGAAGT

Phenotype

MIM: 109090

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

METTL5 PubMed Links

Gene Details

Gene

METTL5

Gene Name

methyltransferase like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293186.1	761	Missense Mutation	CAC,TAC	H190Y	NP_001280115.1
NM_001293187.1	761	Missense Mutation	CAC,TAC	H190Y	NP_001280116.1
NM_014168.3	761	Missense Mutation	CAC,TAC	H190Y	NP_054887.2
XM_011511023.1	761	Silent Mutation	CAC,CAT	H172H	XP_011509325.1

Gene

SSB

Gene Name

Sjogren syndrome antigen B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294145.1	761	Intron			NP_001281074.1
NM_003142.4	761	Intron			NP_003133.1

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