Product Details

SNP ID
rs200199545
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53159680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCTTCCCTCGCAGGCTGGGGGG[C/T]ACGAACCAGAAACACACATTGACAA
Phenotype
MIM: 616569
Polymorphism
C/T, 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 1136 Silent Mutation GTA,GTG V417V NP_001231634.1
NM_001244706.1 1136 Intron NP_001231635.1
NM_015989.4 1136 Silent Mutation GTA,GTG V444V NP_057073.4
XM_011538442.2 1136 Silent Mutation GTA,GTG V475V XP_011536744.2
XM_011538446.2 1136 Silent Mutation GTA,GTG V444V XP_011536748.1
XM_011538449.1 1136 Silent Mutation GTA,GTG V217V XP_011536751.1
XM_011538451.1 1136 Silent Mutation GTA,GTG V199V XP_011536753.1
XM_017019416.1 1136 Intron XP_016874905.1
XM_017019417.1 1136 Silent Mutation GTA,GTG V217V XP_016874906.1
XM_017019418.1 1136 Silent Mutation GTA,GTG V199V XP_016874907.1
XM_017019419.1 1136 Silent Mutation GTA,GTG V292V XP_016874908.1

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