Product Details

SNP ID

rs142205825

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:47033181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAAGGATGCTGCTGCTGCTGTCT[C/T]TGCCACCGCCGCTGCTGCTCTGGCT

Phenotype

MIM: 614697 MIM: 609522

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KATNAL2 PubMed Links

Additional Information

For this assay, SNP(s) [rs532133812] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

KATNAL2

Gene Name

katanin catalytic subunit A1 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031303.2	2437	Intron			NP_112593.2
XM_005258357.4	2437	Intron			XP_005258414.1
XM_005258358.4	2437	Intron			XP_005258415.1
XM_005258361.3	2437	Intron			XP_005258418.1
XM_006722554.3	2437	Intron			XP_006722617.1
XM_011526219.2	2437	Intron			XP_011524521.1
XM_011526220.1	2437	Intron			XP_011524522.1
XM_011526221.2	2437	Intron			XP_011524523.1
XM_011526223.2	2437	Intron			XP_011524525.1
XM_017026028.1	2437	Intron			XP_016881517.1
XM_017026029.1	2437	Intron			XP_016881518.1
XM_017026030.1	2437	Intron			XP_016881519.1
XM_017026031.1	2437	Intron			XP_016881520.1
XM_017026032.1	2437	Intron			XP_016881521.1

Gene

TCEB3B

Gene Name

transcription elongation factor B subunit 3B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016427.2	2437	Missense Mutation	AAA,AGA	K695R	NP_057511.2

Gene

TCEB3C

Gene Name

transcription elongation factor B subunit 3C

There are no transcripts associated with this gene.

Gene

TCEB3CL

Gene Name

transcription elongation factor B subunit 3C like

There are no transcripts associated with this gene.

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