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SNP ID: rs199920944
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:53771919 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTTTTAAAACAGCCTGGAAGAGTT[C/G]TGACTCTTGTTGAAGATCCTGCGGT
Phenotype: MIM: 605760
Polymorphism: C/G, 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	243	Intron			NP_001188894.1
NM_016115.4	243	Intron			NP_057199.1
NM_145863.2	243	Intron			NP_665862.1

Gene: CHAC2
Gene Name: ChaC cation transport regulator homolog 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008708.2	243	Missense Mutation	CTG,GTG	L50V	NP_001008708.1

Gene: GPR75-ASB3
Gene Name: GPR75-ASB3 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164165.1	243	Intron			NP_001157637.1

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