Product Details

SNP ID

rs28385751

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:53865294 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGATCACAAGCCTGCCACGATGGC[C/T]GCTGCTCCTTGTAGCCCACCCATGA

Phenotype

MIM: 605458

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTR8 PubMed Links

Gene Details

Gene

ACTR8

Gene Name

ARP8 actin-related protein 8 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022899.4	1403	Intron			NP_075050.3
XM_005265587.4	1403	Intron			XP_005265644.1
XM_011534249.2	1403	Intron			XP_011532551.1

Gene

IL17RB

Gene Name

interleukin 17 receptor B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018725.3	1403	Missense Mutation	CGC,TGC	R499C	NP_061195.2
XM_005265310.4	1403	Missense Mutation	CGC,TGC	R528C	XP_005265367.1
XM_005265311.4	1403	Missense Mutation	CGC,TGC	R512C	XP_005265368.1
XM_005265312.4	1403	Missense Mutation	CGC,TGC	R483C	XP_005265369.1
XM_011533941.2	1403	UTR 3			XP_011532243.1
XM_017006804.1	1403	Missense Mutation	CGC,TGC	R411C	XP_016862293.1
XM_017006805.1	1403	Missense Mutation	CGC,TGC	R395C	XP_016862294.1
XM_017006806.1	1403	Missense Mutation	CGC,TGC	R382C	XP_016862295.1
XM_017006807.1	1403	UTR 3			XP_016862296.1

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