Product Details

SNP ID
rs143579397
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53160121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCCCCCACCTCCTCCCGCCTACC[A/G]GGCAAGGACAAAGGCCTGGTCGATG
Phenotype
MIM: 616569
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CSAD PubMed Links

Gene Details

Gene
CSAD
Gene Name
cysteine sulfinic acid decarboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001244705.1 1050 Missense Mutation CGG,TGG R389W NP_001231634.1
NM_001244706.1 1050 Intron NP_001231635.1
NM_015989.4 1050 Missense Mutation CGG,TGG R416W NP_057073.4
XM_011538442.2 1050 Missense Mutation CGG,TGG R447W XP_011536744.2
XM_011538446.2 1050 Missense Mutation CGG,TGG R416W XP_011536748.1
XM_011538449.1 1050 Missense Mutation CGG,TGG R189W XP_011536751.1
XM_011538451.1 1050 Missense Mutation CGG,TGG R171W XP_011536753.1
XM_017019416.1 1050 Intron XP_016874905.1
XM_017019417.1 1050 Missense Mutation CGG,TGG R189W XP_016874906.1
XM_017019418.1 1050 Missense Mutation CGG,TGG R171W XP_016874907.1
XM_017019419.1 1050 Missense Mutation CGG,TGG R264W XP_016874908.1

View Full Product Details