Product Details

SNP ID

rs201034493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:130181591 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCCGCCATTCCGCCACGGCGCCG[A/G]AAGTCGTCATCAAGCTGCGCGCAGA

Phenotype

MIM: 613450 MIM: 610457

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171083.2		Intron			NP_001164554.1
NM_017751.4		Intron			NP_060221.2
NM_017951.4		Intron			NP_060421.2
XM_011511443.2		Intron			XP_011509745.1
XM_011511444.2		Intron			XP_011509746.1
XM_011511445.2		Intron			XP_011509747.1
XM_017004448.1		Intron			XP_016859937.1
XM_017004449.1		Intron			XP_016859938.1

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