Product Details

SNP ID
rs199602506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:93678865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGGACTGGTTCTTCAGTACCTC[C/T]ACCAGGAAGGAATCTTGACGGAAAA
Phenotype
MIM: 603454
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRADD PubMed Links

Gene Details

Gene
CRADD
Gene Name
CASP2 and RIPK1 domain containing adaptor with death domain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320099.1 222 Missense Mutation CAC,TAC H31Y NP_001307028.1
NM_001320100.1 222 Missense Mutation CAC,TAC H31Y NP_001307029.1
NM_001320101.1 222 Missense Mutation CAC,TAC H31Y NP_001307030.1
NM_003805.4 222 Missense Mutation CAC,TAC H31Y NP_003796.1
XM_017020142.1 222 Missense Mutation CAC,TAC H31Y XP_016875631.1
XM_017020143.1 222 Missense Mutation CAC,TAC H31Y XP_016875632.1
XM_017020144.1 222 Missense Mutation CAC,TAC H31Y XP_016875633.1
XM_017020145.1 222 Missense Mutation CAC,TAC H31Y XP_016875634.1

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