Product Details

SNP ID

rs150323333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:106977939 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATACTATTCTGTATACTTCTTGGG[A/C]AAAGTTGAAAAAGAAATCCTTTGAG

Phenotype

MIM: 616929

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MTERF2 PubMed Links

Gene Details

Gene

MTERF2

Gene Name

mitochondrial transcription termination factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033050.2	1132	Missense Mutation	TGC,TTC	C259F	NP_001028222.1
NM_025198.4	1132	Missense Mutation	TGC,TTC	C259F	NP_079474.2
XM_011538767.2	1132	Missense Mutation	TGC,TTC	C259F	XP_011537069.1
XM_017019985.1	1132	Missense Mutation	TGC,TTC	C259F	XP_016875474.1
XM_017019986.1	1132	Missense Mutation	TGC,TTC	C259F	XP_016875475.1
XM_017019987.1	1132	Missense Mutation	TGC,TTC	C259F	XP_016875476.1

Gene

TMEM263

Gene Name

transmembrane protein 263

There are no transcripts associated with this gene.

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