Product Details

SNP ID

rs185364119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:53670526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTATCCATCTTGAATAGCTGCCA[G/T]TTCTGGAACTTCATACATCCTCAGA

Phenotype

MIM: 605760

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ASB3 PubMed Links

Gene Details

Gene

ASB3

Gene Name

ankyrin repeat and SOCS box containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201965.1	1736	Missense Mutation	ATG,CTG	M439L	NP_001188894.1
NM_016115.4	1736	Missense Mutation	ATG,CTG	M512L	NP_057199.1
NM_145863.2	1736	Missense Mutation	ATG,CTG	M439L	NP_665862.1

Gene

GPR75-ASB3

Gene Name

GPR75-ASB3 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164165.1	1736	Missense Mutation	ATG,CTG	M550L	NP_001157637.1

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