Product Details

SNP ID
rs149349892
Assay Type
Functionally Tested
NCBI dbSNP Submissions
12
Location
Chr.1:161173650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACCACCCCAGCCCCAGTATTCA[C/T]TGGGGAAGCCATTCATCTTCAGGTA
Phenotype
MIM: 604014 MIM: 600923 MIM: 604729
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
B4GALT3 PubMed Links

Gene Details

Gene
B4GALT3
Gene Name
beta-1,4-galactosyltransferase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199873.1 1020 Missense Mutation AAT,AGT N253S NP_001186802.1
NM_001199874.1 1020 Missense Mutation AAT,AGT N253S NP_001186803.1
NM_003779.3 1020 Missense Mutation AAT,AGT N253S NP_003770.1
XM_005245566.1 1020 Missense Mutation AAT,AGT N253S XP_005245623.1
XM_011510093.1 1020 Missense Mutation AAT,AGT N253S XP_011508395.1
XM_017002714.1 1020 Missense Mutation AAT,AGT N253S XP_016858203.1
XM_017002715.1 1020 Intron XP_016858204.1
Gene
PPOX
Gene Name
protoporphyrinogen oxidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000309.3 1020 Intron NP_000300.1
NM_001122764.1 1020 Intron NP_001116236.1
XM_005245291.3 1020 Intron XP_005245348.2
XM_005245295.3 1020 Intron XP_005245352.2
XM_006711402.2 1020 Intron XP_006711465.2
XM_006711403.2 1020 Intron XP_006711466.2
XM_006711404.3 1020 Intron XP_006711467.2
XM_006711406.2 1020 Intron XP_006711469.2
XM_011509663.2 1020 Intron XP_011507965.1
XM_011509664.1 1020 Intron XP_011507966.1
XM_011509665.2 1020 Intron XP_011507967.1
XM_011509666.2 1020 Intron XP_011507968.1
XM_011509667.2 1020 Intron XP_011507969.1
XM_011509668.2 1020 Intron XP_011507970.1
XM_011509669.1 1020 Intron XP_011507971.1
XM_011509670.2 1020 Intron XP_011507972.1
XM_011509671.1 1020 Intron XP_011507973.1
XM_011509672.2 1020 Intron XP_011507974.1
XM_011509673.2 1020 Intron XP_011507975.1
XM_011509674.2 1020 Intron XP_011507976.1
XM_011509675.2 1020 Intron XP_011507977.1
XM_011509676.1 1020 Intron XP_011507978.1
XM_011509677.1 1020 Intron XP_011507979.1
XM_011509678.1 1020 Intron XP_011507980.1
XM_011509679.1 1020 Intron XP_011507981.1
XM_011509681.1 1020 Intron XP_011507983.1
XM_011509682.1 1020 Intron XP_011507984.1
XM_017001559.1 1020 Intron XP_016857048.1
XM_017001560.1 1020 Intron XP_016857049.1
XM_017001561.1 1020 Intron XP_016857050.1
XM_017001562.1 1020 Intron XP_016857051.1
XM_017001563.1 1020 Intron XP_016857052.1
XM_017001564.1 1020 Intron XP_016857053.1
XM_017001565.1 1020 Intron XP_016857054.1
XM_017001566.1 1020 Intron XP_016857055.1
XM_017001567.1 1020 Intron XP_016857056.1
XM_017001568.1 1020 Intron XP_016857057.1
XM_017001569.1 1020 Intron XP_016857058.1
XM_017001570.1 1020 Intron XP_016857059.1
XM_017001571.1 1020 Intron XP_016857060.1
Gene
USP21
Gene Name
ubiquitin specific peptidase 21
There are no transcripts associated with this gene.

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