Product Details

SNP ID: rs143269025
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:130191778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATACAGAATCTTTAATTGCAAACAA[C/G]TTGAAAGCAGCCATCCTAGGGGTGG
Phenotype: MIM: 613450 MIM: 610457
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: MZT2B PubMed Links

Gene Details

Gene: MZT2B
Gene Name: mitotic spindle organizing protein 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005263795.4		Intron			XP_005263852.1
XM_011511886.2		Intron			XP_011510188.1
XM_011511887.2		Intron			XP_011510189.1
XM_011511888.2		Intron			XP_011510190.1
XM_011511889.2		Intron			XP_011510191.1
XM_011511890.2		Intron			XP_011510192.1

Gene: SMPD4
Gene Name: sphingomyelin phosphodiesterase 4

There are no transcripts associated with this gene.

Gene: TUBA3E
Gene Name: tubulin alpha 3e

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207312.2		Intron			NP_997195.1

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