Product Details

SNP ID: rs146867902
Assay Type: Functionally tested
NCBI dbSNP Submissions: 17
Location: Chr.1:156213025 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGGTTCAACTTCAACATGGCCGAA[A/G]CAAGTAGCGCCAATCTAGGCAGCGG
Phenotype: MIM: 609176 MIM: 610824
Polymorphism: A/G, Transition 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	38	Missense Mutation	ACA,GCA	T4A	NP_001186582.1
NM_001199654.1	38	Missense Mutation	ACA,GCA	T4A	NP_001186583.1
NM_007221.3	38	Missense Mutation	ACA,GCA	T4A	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	38	Missense Mutation	ACA,GCA	T4A	NP_001186590.1
NM_001199662.1	38	Missense Mutation	ACA,GCA	T4A	NP_001186591.1
NM_001199663.1	38	Missense Mutation	ACA,GCA	T4A	NP_001186592.1
NM_001199664.1	38	Missense Mutation	ACA,GCA	T4A	NP_001186593.1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286184.1	38	Intron			NP_001273113.1
NM_014655.3	38	Intron			NP_055470.1
XM_006711657.3	38	Intron			XP_006711720.1
XM_011510180.1	38	Intron			XP_011508482.1
XM_011510181.1	38	Intron			XP_011508483.1
XM_017002904.1	38	Intron			XP_016858393.1
XM_017002905.1	38	Intron			XP_016858394.1
XM_017002906.1	38	Intron			XP_016858395.1
XM_017002907.1	38	Intron			XP_016858396.1
XM_017002908.1	38	Intron			XP_016858397.1

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