Product Details
- SNP ID
-
rs113396594
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:495007 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGCTGTGGTTGGCCAACAGGGTTG[C/T]GGCGAGGCTGCTGCAGCTGCTGTCA
- Phenotype
-
MIM: 612793
MIM: 173320
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PTDSS2
PubMed Links
Gene Details
- Gene
- PTDSS2
- Gene Name
- phosphatidylserine synthase 2
There are no transcripts associated with this gene.
- Gene
- RNH1
- Gene Name
- ribonuclease/angiogenin inhibitor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002939.3 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_002930.2 |
NM_203383.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976317.1 |
NM_203384.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976318.1 |
NM_203385.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976319.1 |
NM_203386.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976320.1 |
NM_203387.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976321.1 |
NM_203388.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976322.1 |
NM_203389.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
NP_976323.1 |
XM_011520255.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518557.1 |
XM_011520257.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518559.1 |
XM_011520258.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518560.1 |
XM_011520259.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518561.1 |
XM_011520260.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518562.1 |
XM_011520261.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518563.1 |
XM_011520262.2 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518564.1 |
XM_011520263.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_011518565.1 |
XM_017018106.1 |
1314 |
Missense Mutation |
ACA,GCA |
T392A |
XP_016873595.1 |
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