Product Details

SNP ID

rs199766172

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:245749628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAATCAAATCTTCAATCAGGCTGT[A/G]TTCTCTGCCATGTGTCACTCTCATA

Phenotype

MIM: 608783

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMYD3 PubMed Links

Gene Details

Gene

SMYD3

Gene Name

SET and MYND domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167740.1	1175	Missense Mutation	CAC,TAC	H408Y	NP_001161212.1
NM_022743.2	1175	Missense Mutation	CAC,TAC	H349Y	NP_073580.1
XM_011544253.1	1175	Missense Mutation	CAC,TAC	H371Y	XP_011542555.1
XM_011544254.2	1175	Missense Mutation	CAC,TAC	H266Y	XP_011542556.1
XM_011544257.1	1175	Missense Mutation	CAC,TAC	H238Y	XP_011542559.1
XM_011544258.2	1175	Missense Mutation	CAC,TAC	H219Y	XP_011542560.1
XM_011544259.2	1175	Missense Mutation	CAC,TAC	H219Y	XP_011542561.1
XM_011544260.1	1175	Missense Mutation	CAC,TAC	H219Y	XP_011542562.1
XM_011544261.2	1175	Missense Mutation	CAC,TAC	H219Y	XP_011542563.1
XM_017002094.1	1175	Missense Mutation	CAC,TAC	H219Y	XP_016857583.1
XM_017002095.1	1175	Missense Mutation	CAC,TAC	H216Y	XP_016857584.1

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