Product Details

SNP ID

rs139487489

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57783199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCTCGGCCTCCAGCAAGGAGCT[C/T]CTCATGAAGCTGCGGCGGAAAACAG

Phenotype

MIM: 615258 MIM: 604723

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

METTL21B PubMed Links

Gene Details

Gene

METTL21B

Gene Name

methyltransferase like 21B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015433.2	204	Intron			NP_056248.2
NM_206914.1	204	Intron			NP_996797.1

Gene

TSFM

Gene Name

Ts translation elongation factor, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172695.1	204	Silent Mutation	CTC,CTT	L49L	NP_001166166.1
NM_001172696.1	204	Silent Mutation	CTC,CTT	L49L	NP_001166167.1
NM_001172697.1	204	Silent Mutation	CTC,CTT	L49L	NP_001166168.1
NM_005726.5	204	Silent Mutation	CTC,CTT	L49L	NP_005717.3

View Full Product Details