Product Details

SNP ID
rs202171737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53159676 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCCTGCTTCCCTCGCAGGCTGG[A/G]GGGTACGAACCAGAAACACACATTG
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 1140 Missense Mutation ACC,GCC T419A NP_001231634.1
NM_001244706.1 1140 Intron NP_001231635.1
NM_015989.4 1140 Missense Mutation ACC,GCC T446A NP_057073.4
XM_011538442.2 1140 Missense Mutation ACC,GCC T477A XP_011536744.2
XM_011538446.2 1140 Missense Mutation ACC,GCC T446A XP_011536748.1
XM_011538449.1 1140 Missense Mutation ACC,GCC T219A XP_011536751.1
XM_011538451.1 1140 Missense Mutation ACC,GCC T201A XP_011536753.1
XM_017019416.1 1140 Intron XP_016874905.1
XM_017019417.1 1140 Missense Mutation ACC,GCC T219A XP_016874906.1
XM_017019418.1 1140 Missense Mutation ACC,GCC T201A XP_016874907.1
XM_017019419.1 1140 Missense Mutation ACC,GCC T294A XP_016874908.1

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