Product Details

SNP ID
rs144754384
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:54549975 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGCAAGAAGATGTGGATTAAG[C/G]TTCGGTCTCTGTAAGTCCCCGGCCC
Phenotype
MIM: 141180 MIM: 171891
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NCKAP1L PubMed Links

Gene Details

Gene
NCKAP1L
Gene Name
NCK associated protein 1 like
There are no transcripts associated with this gene.

Gene
PDE1B
Gene Name
phosphodiesterase 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000924.3 496 Missense Mutation CTT,GTT L35V NP_000915.1
NM_001165975.2 496 Intron NP_001159447.1
NM_001288768.1 496 UTR 5 NP_001275697.1
NM_001288769.1 496 Intron NP_001275698.1
NM_001315534.1 496 Intron NP_001302463.1
NM_001315535.1 496 Intron NP_001302464.1
XM_011538456.1 496 UTR 5 XP_011536758.1
XM_017019432.1 496 Intron XP_016874921.1
XM_017019433.1 496 Intron XP_016874922.1

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