Product Details

SNP ID

rs35294030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:169779040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGCGAAAAAGTCATCTCAAACGA[A/G]AAAGAAGAAGAAGGCTTTCAACTCC

Phenotype

MIM: 608534 MIM: 606042

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTRT3 PubMed Links

Gene Details

Gene

ACTRT3

Gene Name

actin related protein T3

There are no transcripts associated with this gene.

Gene

MYNN

Gene Name

myoneurin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001185118.1	1726	Missense Mutation	AAA,AGA	K180R	NP_001172047.1
NM_001185119.1	1726	Missense Mutation	AAA,AGA	K180R	NP_001172048.1
NM_018657.4	1726	Missense Mutation	AAA,AGA	K180R	NP_061127.1
XM_005247621.4	1726	Missense Mutation	AAA,AGA	K180R	XP_005247678.1
XM_005247622.3	1726	Missense Mutation	AAA,AGA	K98R	XP_005247679.1
XM_005247624.3	1726	Missense Mutation	AAA,AGA	K66R	XP_005247681.1
XM_011512987.1	1726	Missense Mutation	AAA,AGA	K180R	XP_011511289.1
XM_017006864.1	1726	Missense Mutation	AAA,AGA	K180R	XP_016862353.1
XM_017006865.1	1726	Missense Mutation	AAA,AGA	K66R	XP_016862354.1
XM_017006866.1	1726	Missense Mutation	AAA,AGA	K66R	XP_016862355.1
XM_017006867.1	1726	UTR 5			XP_016862356.1
XM_017006868.1	1726	UTR 5			XP_016862357.1

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