Product Details

SNP ID
rs200334932
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53184952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTGGTTCCCACTGCAGCCAGCA[A/C]GAAGATGATGCTGAGCCAGATTGCC
Phenotype
MIM: 616569 MIM: 147559
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CSAD PubMed Links

Gene Details

Gene
CSAD
Gene Name
cysteine sulfinic acid decarboxylase
There are no transcripts associated with this gene.

Gene
ITGB7
Gene Name
integrin subunit beta 7
There are no transcripts associated with this gene.

Gene
ZNF740
Gene Name
zinc finger protein 740
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004304.3 665 Missense Mutation AAG,ACG K24T NP_001004304.1
XM_006719344.2 665 Missense Mutation AAG,ACG K24T XP_006719407.1
XM_011538194.2 665 Missense Mutation AAG,ACG K24T XP_011536496.1
XM_017019181.1 665 Missense Mutation AAG,ACG K24T XP_016874670.1

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