Product Details

SNP ID

rs1804644

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:44943576 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACTGCTTCAGGACCAAATAGCAGAG[C/T]GCTCTGAAGGGAAAGACCATTTCAG

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	775	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	775	Silent Mutation	GCA,GCG	A234A	NP_006800.2
XM_005260254.2	775	Silent Mutation	GCA,GCG	A132A	XP_005260311.1
XM_011528501.1	775	Silent Mutation	GCA,GCG	A208A	XP_011526803.1
XM_017027600.1	775	Missense Mutation	CAC,CGC	H185R	XP_016883089.1

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