Product Details

SNP ID

rs148038387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241106634 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCATTAGGAGCCTCGCCTGGAA[C/T]GGGGCCCCCACAAAGCTCCTGAGCC

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	4199	Missense Mutation	ATT,GTT	I1309V	NP_001239048.1
NM_001252120.1	4199	Missense Mutation	ATT,GTT	I1302V	NP_001239049.1
NM_001252122.1	4199	Missense Mutation	ATT,GTT	I1267V	NP_001239051.1
NM_001252124.1	4199	Intron			NP_001239053.1
NM_015148.3	4199	Missense Mutation	ATT,GTT	I1302V	NP_055963.2
XM_005246991.1	4199	Missense Mutation	ATT,GTT	I1086V	XP_005247048.1
XM_011510826.1	4199	Missense Mutation	ATT,GTT	I1334V	XP_011509128.1
XM_011510828.1	4199	Missense Mutation	ATT,GTT	I1309V	XP_011509130.1
XM_011510829.1	4199	Missense Mutation	ATT,GTT	I1309V	XP_011509131.1
XM_011510830.1	4199	Missense Mutation	ATT,GTT	I1309V	XP_011509132.1
XM_011510831.2	4199	Missense Mutation	ATT,GTT	I1123V	XP_011509133.1
XM_011510832.2	4199	Missense Mutation	ATT,GTT	I1116V	XP_011509134.1
XM_011510833.1	4199	Missense Mutation	ATT,GTT	I1093V	XP_011509135.1
XM_011510834.1	4199	Missense Mutation	ATT,GTT	I923V	XP_011509136.1
XM_011510835.1	4199	Missense Mutation	ATT,GTT	I852V	XP_011509137.1
XM_017003634.1	4199	Missense Mutation	ATT,GTT	I1393V	XP_016859123.1
XM_017003635.1	4199	Missense Mutation	ATT,GTT	I1302V	XP_016859124.1
XM_017003636.1	4199	Missense Mutation	ATT,GTT	I1302V	XP_016859125.1

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