Product Details

SNP ID
rs149832080
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14093213 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTCGTATCCCCAGGGCCTTTAA[A/G]CTTTGGTATGAAGGGAGCTTCCACC
Phenotype
MIM: 601639
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C19orf67 PubMed Links

Gene Details

Gene
C19orf67
Gene Name
chromosome 19 open reading frame 67
There are no transcripts associated with this gene.

Gene
PRKACA
Gene Name
protein kinase cAMP-activated catalytic subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304349.1 1589 Missense Mutation CTT,TTT L395F NP_001291278.1
NM_002730.3 1589 Missense Mutation CTT,TTT L319F NP_002721.1
NM_207518.2 1589 Intron NP_997401.1
XM_017026948.1 1589 Intron XP_016882437.1
Gene
SAMD1
Gene Name
sterile alpha motif domain containing 1
There are no transcripts associated with this gene.

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