Product Details

SNP ID

rs142991391

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:31728258 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTCGTGGTAGAGTTCTGAATGC[C/T]GTTTCCGGGTGTGCATCACCTTCTA

Phenotype

MIM: 602683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADGRB2 PubMed Links

Gene Details

Gene

ADGRB2

Gene Name

adhesion G protein-coupled receptor B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294335.1	4862	Missense Mutation	CAG,CGG	Q1479R	NP_001281264.1
NM_001294336.1	4862	Missense Mutation	CAG,CGG	Q1446R	NP_001281265.1
XM_011541848.2	4862	Missense Mutation	CAG,CGG	Q1480R	XP_011540150.1
XM_011541849.2	4862	Missense Mutation	CAG,CGG	Q1468R	XP_011540151.1
XM_011541858.2	4862	Missense Mutation	CAG,CGG	Q1177R	XP_011540160.1
XM_017001899.1	4862	Missense Mutation	CAG,CGG	Q1480R	XP_016857388.1
XM_017001900.1	4862	Missense Mutation	CAG,CGG	Q1479R	XP_016857389.1
XM_017001901.1	4862	Missense Mutation	CAG,CGG	Q1480R	XP_016857390.1
XM_017001902.1	4862	Missense Mutation	CAG,CGG	Q1479R	XP_016857391.1
XM_017001903.1	4862	Missense Mutation	CAG,CGG	Q1457R	XP_016857392.1
XM_017001904.1	4862	Missense Mutation	CAG,CGG	Q1447R	XP_016857393.1
XM_017001905.1	4862	Missense Mutation	CAG,CGG	Q1446R	XP_016857394.1
XM_017001906.1	4862	Missense Mutation	CAG,CGG	Q1447R	XP_016857395.1
XM_017001907.1	4862	Missense Mutation	CAG,CGG	Q1425R	XP_016857396.1
XM_017001908.1	4862	Missense Mutation	CAG,CGG	Q1425R	XP_016857397.1
XM_017001909.1	4862	Missense Mutation	CAG,CGG	Q1425R	XP_016857398.1
XM_017001910.1	4862	Missense Mutation	CAG,CGG	Q1392R	XP_016857399.1
XM_017001911.1	4862	Missense Mutation	CAG,CGG	Q1392R	XP_016857400.1
XM_017001912.1	4862	Missense Mutation	CAG,CGG	Q1370R	XP_016857401.1

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