Product Details

SNP ID

rs148102267

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241108289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAGAGACCACATCTCCAGCTCC[A/G]GCCCTCTGTAGCTGTGAGGAGGAGG

Phenotype

MIM: 615393 MIM: 607505

Polymorphism

A/G, 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	3840	Missense Mutation	CCG,CTG	P1189L	NP_001239048.1
NM_001252120.1	3840	Missense Mutation	CCG,CTG	P1182L	NP_001239049.1
NM_001252122.1	3840	Missense Mutation	CCG,CTG	P1147L	NP_001239051.1
NM_001252124.1	3840	Intron			NP_001239053.1
NM_015148.3	3840	Missense Mutation	CCG,CTG	P1182L	NP_055963.2
XM_005246991.1	3840	Missense Mutation	CCG,CTG	P966L	XP_005247048.1
XM_011510826.1	3840	Missense Mutation	CCG,CTG	P1214L	XP_011509128.1
XM_011510828.1	3840	Missense Mutation	CCG,CTG	P1189L	XP_011509130.1
XM_011510829.1	3840	Missense Mutation	CCG,CTG	P1189L	XP_011509131.1
XM_011510830.1	3840	Missense Mutation	CCG,CTG	P1189L	XP_011509132.1
XM_011510831.2	3840	Missense Mutation	CCG,CTG	P1003L	XP_011509133.1
XM_011510832.2	3840	Missense Mutation	CCG,CTG	P996L	XP_011509134.1
XM_011510833.1	3840	Missense Mutation	CCG,CTG	P973L	XP_011509135.1
XM_011510834.1	3840	Missense Mutation	CCG,CTG	P803L	XP_011509136.1
XM_011510835.1	3840	Missense Mutation	CCG,CTG	P732L	XP_011509137.1
XM_017003634.1	3840	Missense Mutation	CCG,CTG	P1273L	XP_016859123.1
XM_017003635.1	3840	Missense Mutation	CCG,CTG	P1182L	XP_016859124.1
XM_017003636.1	3840	Missense Mutation	CCG,CTG	P1182L	XP_016859125.1

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