Product Details

SNP ID

rs1724119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96124109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTTTTTCAGGGCAGGGGACTCC[A/C]ACCCATGTGGGCTCTCCCCAGGCCC

Phenotype

MIM: 104260 MIM: 608860

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ADRA2B PubMed Links

Gene Details

Gene

ADRA2B

Gene Name

adrenoceptor alpha 2B

There are no transcripts associated with this gene.

Gene

ASTL

Gene Name

astacin-like metallo-endopeptidase (M12 family)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002036.3	1852	Missense Mutation	TGG,TTG	W346L	NP_001002036.3
XM_011511205.2	1852	Missense Mutation	TGG,TTG	W351L	XP_011509507.1
XM_011511206.2	1852	Missense Mutation	TGG,TTG	W347L	XP_011509508.1
XM_011511207.2	1852	Missense Mutation	TGG,TTG	W333L	XP_011509509.1
XM_011511208.2	1852	Intron			XP_011509510.1

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