Product Details

SNP ID

rs148038848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:39521605 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCATGGGTTCTCCAGCGACAAG[A/G]CTAAGGCGGGCTCCTCCGAATGGCT

Phenotype

MIM: 604064 MIM: 615497 MIM: 610225

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATF4 PubMed Links

Gene Details

Gene

ATF4

Gene Name

activating transcription factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001675.4	919	Intron			NP_001666.2
NM_182810.2	919	Intron			NP_877962.1
XM_017028807.1	919	Missense Mutation	ACT,GCT	T54A	XP_016884296.1

Gene

MIEF1

Gene Name

mitochondrial elongation factor 1

There are no transcripts associated with this gene.

Gene

RPS19BP1

Gene Name

ribosomal protein S19 binding protein 1

There are no transcripts associated with this gene.

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