Product Details

SNP ID

rs201672118

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:102686056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGTCCCATTTTAGTATCCCCTTA[A/C]AAAGTTTGACTGATGACTCTGGATA

Phenotype

MIM: 615259 MIM: 190470

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

METTL21C PubMed Links

Gene Details

Gene

METTL21C

Gene Name

methyltransferase like 21C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010977.2	793	Missense Mutation	TGT,TTT	C257F	NP_001010977.1
XM_017020407.1	793	Missense Mutation	TGT,TTT	C257F	XP_016875896.1
XM_017020408.1	793	Missense Mutation	TGT,TTT	C257F	XP_016875897.1

Gene

TPP2

Gene Name

tripeptidyl peptidase 2

There are no transcripts associated with this gene.

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