Product Details

SNP ID
rs201421940
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144423937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCTGCAGCCTGGGAGTGCAGCA[C/G]AGGGCATGTGGGGGCTGAGGGCCTC
Phenotype
MIM: 607059 MIM: 604546 MIM: 611952
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SLC39A4 PubMed Links

Gene Details

Gene
SLC39A4
Gene Name
solute carrier family 39 member 4
There are no transcripts associated with this gene.

Gene
TONSL
Gene Name
tonsoku-like, DNA repair protein
There are no transcripts associated with this gene.

Gene
VPS28
Gene Name
VPS28, ESCRT-I subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016208.3 761 Intron NP_057292.1
NM_183057.2 761 Missense Mutation CTG,GTG L218V NP_898880.1
XM_005272323.3 761 Missense Mutation CTG,GTG L201V XP_005272380.1
XM_005272324.3 761 Intron XP_005272381.1
XM_005272325.3 761 Missense Mutation CTG,GTG L180V XP_005272382.1
XM_011517099.1 761 Missense Mutation CTG,GTG L180V XP_011515401.1
XM_011517100.1 761 Intron XP_011515402.1
XM_017013529.1 761 Intron XP_016869018.1

View Full Product Details