Product Details

SNP ID

rs201126185

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44062828 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCGCACCGTTTCCTCATCACCC[A/C]GGAACTGCATGGGCTTGGTGGGCTT

Phenotype

MIM: 610106 MIM: 612931 MIM: 606344

Polymorphism

A/C, 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	756	Intron			NP_001014436.1
NM_001122956.1	756	Intron			NP_001116428.1
NM_001284313.1	756	Intron			NP_001271242.1
NM_001284315.1	756	Intron			NP_001271244.1
NM_014063.6	756	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	756	Missense Mutation	CGG,CTG	R233L	NP_000281.2

Gene

POLM

Gene Name

DNA polymerase mu

There are no transcripts associated with this gene.

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