Product Details

SNP ID

rs200948076

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:36003619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTCTCAGGCACCTCACCCTGGA[C/T]TCCCCTCCAGCCTCACATCCTGGAG

Phenotype

MIM: 613304 MIM: 612848 MIM: 615535

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALKBH6 PubMed Links

Gene Details

Gene

ALKBH6

Gene Name

alkB homolog 6

There are no transcripts associated with this gene.

Gene

SDHAF1

Gene Name

succinate dehydrogenase complex assembly factor 1

There are no transcripts associated with this gene.

Gene

SYNE4

Gene Name

spectrin repeat containing nuclear envelope family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039876.2	798	Missense Mutation	AAT,AGT	N342S	NP_001034965.1
NM_001297735.2	798	Missense Mutation	AAT,AGT	N229S	NP_001284664.1

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