Product Details

SNP ID

rs200188637

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:53865028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTGTGCGATGGTACCTGTGGCA[A/C]GAGCGAGGGCAGTCCCAGTGAGAAC

Phenotype

MIM: 605458

Polymorphism

A/C, Transversion 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	1137	Intron			NP_075050.3
XM_005265587.4	1137	Intron			XP_005265644.1
XM_011534249.2	1137	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	1137	Missense Mutation	AAG,ACG	K410T	NP_061195.2
XM_005265310.4	1137	Missense Mutation	AAG,ACG	K439T	XP_005265367.1
XM_005265311.4	1137	Missense Mutation	AAG,ACG	K423T	XP_005265368.1
XM_005265312.4	1137	Missense Mutation	AAG,ACG	K394T	XP_005265369.1
XM_011533941.2	1137	UTR 3			XP_011532243.1
XM_017006804.1	1137	Missense Mutation	AAG,ACG	K322T	XP_016862293.1
XM_017006805.1	1137	Missense Mutation	AAG,ACG	K306T	XP_016862294.1
XM_017006806.1	1137	Missense Mutation	AAG,ACG	K293T	XP_016862295.1
XM_017006807.1	1137	UTR 3			XP_016862296.1

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