Product Details

SNP ID
rs142590508
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57591402 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAGCATTTCGTGCAGCAGAAGG[A/T]GAAGGTGTTCCGGGCGGCCGACCCG
Phenotype
MIM: 602821
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
KIF5A PubMed Links

Gene Details

Gene
KIF5A
Gene Name
kinesin family member 5A
There are no transcripts associated with this gene.

Gene
PIP4K2C
Gene Name
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146258.1 237 Missense Mutation GAG,GTG E38V NP_001139730.1
NM_001146259.1 237 Missense Mutation GAG,GTG E38V NP_001139731.1
NM_001146260.1 237 Missense Mutation GAG,GTG E38V NP_001139732.1
NM_024779.4 237 Missense Mutation GAG,GTG E38V NP_079055.3
XM_005269152.2 237 Missense Mutation GAG,GTG E38V XP_005269209.1
XM_011538747.1 237 Missense Mutation GAG,GTG E38V XP_011537049.1
XM_017019973.1 237 UTR 5 XP_016875462.1

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