Product Details

SNP ID

rs144935133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:109444928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGCTCGGCCTCCTCAGCCACCAG[G/T]CTGTTTTTCTTGTCAACGAGCTGTA

Phenotype

MIM: 607129 MIM: 603498

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MICAL1 PubMed Links

Gene Details

Gene

MICAL1

Gene Name

microtubule associated monooxygenase, calponin and LIM domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159291.1	3297	Missense Mutation	AGA,AGC	R897S	NP_001152763.1
NM_001286613.1	3297	Missense Mutation	AGA,AGC	R1002S	NP_001273542.1
NM_022765.3	3297	Missense Mutation	AGA,AGC	R983S	NP_073602.3

Gene

PPIL6

Gene Name

peptidylprolyl isomerase like 6

There are no transcripts associated with this gene.

Gene

SMPD2

Gene Name

sphingomyelin phosphodiesterase 2

There are no transcripts associated with this gene.

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