Product Details

SNP ID

rs199819995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:109442578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATACAATCGACAGAAGGACATCTA[C/T]CTAGCACATCGTGTGGCCCAAGCTT

Phenotype

MIM: 607129 MIM: 603498

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MICAL1 PubMed Links

Gene Details

Gene

MICAL1

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 1

There are no transcripts associated with this gene.

Gene

PPIL6

Gene Name

peptidylprolyl isomerase like 6

There are no transcripts associated with this gene.

Gene

SMPD2

Gene Name

sphingomyelin phosphodiesterase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003080.2	838	Silent Mutation	TAC,TAT	Y148Y	NP_003071.2
XM_005267109.1	838	UTR 5			XP_005267166.1
XM_011536079.1	838	Silent Mutation	TAC,TAT	Y43Y	XP_011534381.1

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