Product Details

SNP ID

rs2437008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:47028933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAAGCAGCTTCCTCCCGGAACT[C/T]TGGTGAAGAGAGTGCTTCTGGCTTT

Phenotype

MIM: 614697 MIM: 609522

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KATNAL2 PubMed Links

Gene Details

Gene

KATNAL2

Gene Name

katanin catalytic subunit A1 like 2

There are no transcripts associated with this gene.

Gene

TCEB3B

Gene Name

transcription elongation factor B subunit 3B

There are no transcripts associated with this gene.

Gene

TCEB3C

Gene Name

transcription elongation factor B subunit 3C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145653.3	1146	Missense Mutation	ACG,GCG	T304A	NP_663628.2

Gene

TCEB3CL

Gene Name

transcription elongation factor B subunit 3C like

There are no transcripts associated with this gene.

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