Product Details

SNP ID

rs143860933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4539755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGGGCTGGGACCTTAGCCTTT[A/G]TCCTGTTCCTCTTCTTCCTGCCCAT

Phenotype

MIM: 604885 MIM: 612584

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYBBP1A PubMed Links

Gene Details

Gene

MYBBP1A

Gene Name

MYB binding protein 1a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105538.1	3709	Missense Mutation	ACA,ATA	T1216I	NP_001099008.1
NM_014520.3	3709	Missense Mutation	ACA,ATA	T1216I	NP_055335.2
XM_011523616.2	3709	Missense Mutation	ACA,ATA	T964I	XP_011521918.1

Gene

SPNS2

Gene Name

sphingolipid transporter 2

There are no transcripts associated with this gene.

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