Product Details

SNP ID: rs199730143
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:53787313 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCGTCCGGCGGCGGCCGAGCCCTT[A/C]CTCAACTCAGCGATGACATCCCTTT
Phenotype: MIM: 605760 MIM: 611229
Polymorphism: A/C, 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	383	Intron			NP_001188894.1
NM_016115.4	383	Intron			NP_057199.1
NM_145863.2	383	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	383	Missense Mutation	ACT,CCT	T35P	NP_001120869.1
NM_001127398.2	383	Missense Mutation	ACT,CCT	T35P	NP_001120870.1
NM_015701.4	383	Missense Mutation	ACT,CCT	T35P	NP_056516.2
XM_011532766.1	383	Missense Mutation	ACT,CCT	T35P	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	383	Intron			NP_001157637.1

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