Product Details

SNP ID
rs183395364
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53185394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGATTTGTCTTCAAAGGGTCACC[A/G]AAAAGACAGTGATAAGTCCCGGAGC
Phenotype
MIM: 616569 MIM: 147559
Polymorphism
A/G, Transition 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_001004304.3 761 Missense Mutation CAA,CGA Q56R NP_001004304.1
XM_006719344.2 761 Missense Mutation CAA,CGA Q56R XP_006719407.1
XM_011538194.2 761 Missense Mutation CAA,CGA Q56R XP_011536496.1
XM_017019181.1 761 Missense Mutation CAA,CGA Q56R XP_016874670.1

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