Product Details

SNP ID

rs143754722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:88067959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAAGGAGTTCTGGGCTGCAGATA[C/T]CATCTTTGCTGAGCGGGCTTATTCC

Phenotype

MIM: 606846

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMYD1 PubMed Links

Gene Details

Gene

SMYD1

Gene Name

SET and MYND domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198274.3	135	Missense Mutation	ACC,ATC	T32I	NP_938015.1
XM_005264156.2	135	Missense Mutation	ACC,ATC	T32I	XP_005264213.1

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