Product Details

SNP ID

rs11557687

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:53787255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTACGGAGTCTGGTCCCGGGCGG[A/G]CCGGTGTTACTGGTCCTCTGCGGCC

Phenotype

MIM: 605760 MIM: 611229

Polymorphism

A/G, Transition 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	325	Intron			NP_001188894.1
NM_016115.4	325	Intron			NP_057199.1
NM_145863.2	325	Intron			NP_665862.1

Gene

ERLEC1

Gene Name

endoplasmic reticulum lectin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127397.2	325	Silent Mutation	GGA,GGG	G15G	NP_001120869.1
NM_001127398.2	325	Silent Mutation	GGA,GGG	G15G	NP_001120870.1
NM_015701.4	325	Silent Mutation	GGA,GGG	G15G	NP_056516.2
XM_011532766.1	325	Silent Mutation	GGA,GGG	G15G	XP_011531068.1

Gene

GPR75-ASB3

Gene Name

GPR75-ASB3 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164165.1	325	Intron			NP_001157637.1

View Full Product Details