Product Details

SNP ID

rs10167000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241108206 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TATGGCGGGTGTATGGCAGCCTCCA[C/T]GGTCTCCTCCAGCTCACAGAAGGGG

Phenotype

MIM: 615393 MIM: 607505

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MTERF4 PubMed Links

Gene Details

Gene

MTERF4

Gene Name

mitochondrial transcription termination factor 4

There are no transcripts associated with this gene.

Gene

PASK

Gene Name

PAS domain containing serine/threonine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252119.1	3923	Missense Mutation	ATG,GTG	M1217V	NP_001239048.1
NM_001252120.1	3923	Missense Mutation	ATG,GTG	M1210V	NP_001239049.1
NM_001252122.1	3923	Missense Mutation	ATG,GTG	M1175V	NP_001239051.1
NM_001252124.1	3923	Intron			NP_001239053.1
NM_015148.3	3923	Missense Mutation	ATG,GTG	M1210V	NP_055963.2
XM_005246991.1	3923	Missense Mutation	ATG,GTG	M994V	XP_005247048.1
XM_011510826.1	3923	Missense Mutation	ATG,GTG	M1242V	XP_011509128.1
XM_011510828.1	3923	Missense Mutation	ATG,GTG	M1217V	XP_011509130.1
XM_011510829.1	3923	Missense Mutation	ATG,GTG	M1217V	XP_011509131.1
XM_011510830.1	3923	Missense Mutation	ATG,GTG	M1217V	XP_011509132.1
XM_011510831.2	3923	Missense Mutation	ATG,GTG	M1031V	XP_011509133.1
XM_011510832.2	3923	Missense Mutation	ATG,GTG	M1024V	XP_011509134.1
XM_011510833.1	3923	Missense Mutation	ATG,GTG	M1001V	XP_011509135.1
XM_011510834.1	3923	Missense Mutation	ATG,GTG	M831V	XP_011509136.1
XM_011510835.1	3923	Missense Mutation	ATG,GTG	M760V	XP_011509137.1
XM_017003634.1	3923	Missense Mutation	ATG,GTG	M1301V	XP_016859123.1
XM_017003635.1	3923	Missense Mutation	ATG,GTG	M1210V	XP_016859124.1
XM_017003636.1	3923	Missense Mutation	ATG,GTG	M1210V	XP_016859125.1

View Full Product Details