Product Details

SNP ID

rs143003049

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44943535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTTGAGGGCTTCTGTGCAGTCC[C/T]TCACTGCTTCTGTGTACTGCTTCAG

Phenotype

MIM: 616049

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PABPC1L PubMed Links

Gene Details

Gene

PABPC1L

Gene Name

poly(A) binding protein cytoplasmic 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001124756.2	816	Intron			NP_001118228.1

Gene

TOMM34

Gene Name

translocase of outer mitochondrial membrane 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006809.4	816	Missense Mutation	AAG,AGG	K248R	NP_006800.2
XM_005260254.2	816	Missense Mutation	AAG,AGG	K146R	XP_005260311.1
XM_011528501.1	816	Missense Mutation	AAG,AGG	K222R	XP_011526803.1
XM_017027600.1	816	UTR 3			XP_016883089.1

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