Product Details

SNP ID: rs140230479
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:44062819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCATGGCCTTCCGCACCGTTTCC[G/T]CATCACCCAGGAACTGCATGGGCTT
Phenotype: MIM: 610106 MIM: 612931 MIM: 606344
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: DBNL PubMed Links

Gene Details

Gene: DBNL
Gene Name: drebrin like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014436.2	765	Intron			NP_001014436.1
NM_001122956.1	765	Intron			NP_001116428.1
NM_001284313.1	765	Intron			NP_001271242.1
NM_001284315.1	765	Intron			NP_001271244.1
NM_014063.6	765	Intron			NP_054782.2

Gene: PGAM2
Gene Name: phosphoglycerate mutase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000290.3	765	Missense Mutation	GAG,GCG	E236A	NP_000281.2

Gene: POLM
Gene Name: DNA polymerase mu

There are no transcripts associated with this gene.

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