Product Details
- SNP ID
-
rs189433169
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:137555279 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCCAGAGGTGGAGCGCATGGTCA[C/T]AGAAGGAGCAGGTGGCCAGGAGGCT
- Phenotype
-
MIM: 613210
MIM: 611846
MIM: 612122
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DPH7
PubMed Links
Gene Details
- Gene
- DPH7
- Gene Name
- diphthamide biosynthesis 7
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_138778.3 |
1287 |
Missense Mutation |
TAT,TGT |
Y440C |
NP_620133.1 |
XM_005266123.2 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_005266180.1 |
XM_005266126.3 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_005266183.1 |
XM_005266128.2 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_005266185.1 |
XM_005266129.2 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_005266186.1 |
XM_005266130.2 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_005266187.1 |
XM_011519188.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y418C |
XP_011517490.1 |
XM_011519189.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y400C |
XP_011517491.1 |
XM_011519190.2 |
1287 |
Intron |
|
|
XP_011517492.1 |
XM_011519191.2 |
1287 |
UTR 3 |
|
|
XP_011517493.1 |
XM_011519192.2 |
1287 |
Intron |
|
|
XP_011517494.1 |
XM_011519193.2 |
1287 |
UTR 3 |
|
|
XP_011517495.1 |
XM_011519194.1 |
1287 |
Intron |
|
|
XP_011517496.1 |
XM_011519199.2 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_011517501.1 |
XM_011519200.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_011517502.1 |
XM_017015289.1 |
1287 |
UTR 3 |
|
|
XP_016870778.1 |
XM_017015290.1 |
1287 |
UTR 3 |
|
|
XP_016870779.1 |
XM_017015291.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870780.1 |
XM_017015292.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870781.1 |
XM_017015293.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870782.1 |
XM_017015294.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870783.1 |
XM_017015295.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870784.1 |
XM_017015296.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870785.1 |
XM_017015297.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870786.1 |
XM_017015298.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870787.1 |
XM_017015299.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870788.1 |
XM_017015300.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870789.1 |
XM_017015301.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870790.1 |
XM_017015302.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870791.1 |
XM_017015303.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870792.1 |
XM_017015304.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y264C |
XP_016870793.1 |
XM_017015305.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y242C |
XP_016870794.1 |
XM_017015306.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y242C |
XP_016870795.1 |
XM_017015307.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y242C |
XP_016870796.1 |
XM_017015308.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y242C |
XP_016870797.1 |
XM_017015309.1 |
1287 |
Missense Mutation |
TAT,TGT |
Y242C |
XP_016870798.1 |
- Gene
- MRPL41
- Gene Name
- mitochondrial ribosomal protein L41
There are no transcripts associated with this gene.
- Gene
- PNPLA7
- Gene Name
- patatin like phospholipase domain containing 7
There are no transcripts associated with this gene.
View Full Product Details