Product Details

SNP ID

rs74493390

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:182646839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATGAGGCTGTGTACTTTTCCTT[G/T]GGCTTGGTCAAAGCAAGTCAGGGAT

Phenotype

MIM: 607189

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RGS8 PubMed Links

Gene Details

Gene

RGS8

Gene Name

regulator of G-protein signaling 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102450.2	601	Missense Mutation	AAA,CAA	K147Q	NP_001095920.1
NM_033345.3	601	Missense Mutation	AAA,CAA	K165Q	NP_203131.1
XM_005245555.3	601	Missense Mutation	AAA,CAA	K147Q	XP_005245612.1
XM_011510089.2	601	Missense Mutation	AAA,CAA	K165Q	XP_011508391.1
XM_011510090.2	601	Missense Mutation	AAA,CAA	K147Q	XP_011508392.1
XM_011510091.2	601	Missense Mutation	AAA,CAA	K145Q	XP_011508393.1
XM_017002631.1	601	Missense Mutation	AAA,CAA	K165Q	XP_016858120.1
XM_017002632.1	601	Missense Mutation	AAA,CAA	K165Q	XP_016858121.1
XM_017002633.1	601	Missense Mutation	AAA,CAA	K165Q	XP_016858122.1
XM_017002634.1	601	Missense Mutation	AAA,CAA	K165Q	XP_016858123.1
XM_017002635.1	601	Missense Mutation	AAA,CAA	K147Q	XP_016858124.1
XM_017002636.1	601	Missense Mutation	AAA,CAA	K147Q	XP_016858125.1
XM_017002637.1	601	Missense Mutation	AAA,CAA	K147Q	XP_016858126.1

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