Product Details

SNP ID

rs143579009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:14510935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAGGCACGCAGACCATGTTTAAC[C/T]AGTTCATTTAAATTACCTATATGTA

Phenotype

MIM: 602854

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PSMA1 PubMed Links

Gene Details

Gene

PSMA1

Gene Name

proteasome subunit alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143937.1	707	Intron			NP_001137409.1
NM_002786.3	707	Silent Mutation	CTA,CTG	L187L	NP_002777.1
NM_148976.2	707	Silent Mutation	CTA,CTG	L193L	NP_683877.1

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