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SNP ID: rs12403273
Assay Type: Functionally tested
NCBI dbSNP Submissions: 12
Location: Chr.1:156218317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTTGATGATGTCCTTTGAGGAACAG[A/T]AGTCTTCAATTAAATAAAAAGCAGC
Phenotype: MIM: 609176 MIM: 610824
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: PMF1 PubMed Links

Gene Details

Gene: PMF1
Gene Name: polyamine-modulated factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199653.1		Intron			NP_001186582.1
NM_001199654.1		Intron			NP_001186583.1
NM_007221.3		Intron			NP_009152.2

Gene: PMF1-BGLAP
Gene Name: PMF1-BGLAP readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199661.1		Intron			NP_001186590.1
NM_001199662.1		Intron			NP_001186591.1
NM_001199663.1		Intron			NP_001186592.1
NM_001199664.1		Intron			NP_001186593.1

Gene: SLC25A44
Gene Name: solute carrier family 25 member 44

There are no transcripts associated with this gene.

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