Product Details
- SNP ID
-
rs150451049
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:48688412 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGGTGGTGTGTGCAAAGTCGATC[A/G]TGCGCACATCTACAGAGCTGGCGCC
- Phenotype
-
MIM: 606992
MIM: 606671
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
IP6K2
PubMed Links
Gene Details
- Gene
- IP6K2
- Gene Name
- inositol hexakisphosphate kinase 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001005909.2 |
1394 |
Missense Mutation |
ACG,ATG |
T381M |
NP_001005909.1 |
NM_001005910.2 |
1394 |
Intron |
|
|
NP_001005910.1 |
NM_001005911.2 |
1394 |
Intron |
|
|
NP_001005911.1 |
NM_001146178.2 |
1394 |
Intron |
|
|
NP_001139650.1 |
NM_001146179.2 |
1394 |
Intron |
|
|
NP_001139651.1 |
NM_001190316.1 |
1394 |
Intron |
|
|
NP_001177245.1 |
NM_001190317.1 |
1394 |
Intron |
|
|
NP_001177246.1 |
NM_016291.3 |
1394 |
Missense Mutation |
ACG,ATG |
T381M |
NP_057375.2 |
XM_006713199.3 |
1394 |
Missense Mutation |
ACG,ATG |
T440M |
XP_006713262.1 |
XM_006713200.1 |
1394 |
Missense Mutation |
ACG,ATG |
T439M |
XP_006713263.1 |
XM_006713201.1 |
1394 |
Missense Mutation |
ACG,ATG |
T436M |
XP_006713264.1 |
XM_006713202.1 |
1394 |
Missense Mutation |
ACG,ATG |
T435M |
XP_006713265.1 |
XM_011533816.1 |
1394 |
Missense Mutation |
ACG,ATG |
T435M |
XP_011532118.1 |
XM_011533817.1 |
1394 |
Missense Mutation |
ACG,ATG |
T343M |
XP_011532119.1 |
XM_011533818.1 |
1394 |
Missense Mutation |
ACG,ATG |
T343M |
XP_011532120.1 |
XM_011533822.1 |
1394 |
Intron |
|
|
XP_011532124.1 |
XM_011533823.1 |
1394 |
Intron |
|
|
XP_011532125.1 |
XM_017006583.1 |
1394 |
Missense Mutation |
ACG,ATG |
T381M |
XP_016862072.1 |
XM_017006584.1 |
1394 |
Missense Mutation |
ACG,ATG |
T381M |
XP_016862073.1 |
XM_017006585.1 |
1394 |
Missense Mutation |
ACG,ATG |
T381M |
XP_016862074.1 |
XM_017006586.1 |
1394 |
Missense Mutation |
ACG,ATG |
T343M |
XP_016862075.1 |
XM_017006587.1 |
1394 |
Missense Mutation |
ACG,ATG |
T343M |
XP_016862076.1 |
XM_017006588.1 |
1394 |
Intron |
|
|
XP_016862077.1 |
XM_017006589.1 |
1394 |
Intron |
|
|
XP_016862078.1 |
XM_017006590.1 |
1394 |
Intron |
|
|
XP_016862079.1 |
XM_017006591.1 |
1394 |
Intron |
|
|
XP_016862080.1 |
XM_017006592.1 |
1394 |
Intron |
|
|
XP_016862081.1 |
XM_017006593.1 |
1394 |
Intron |
|
|
XP_016862082.1 |
- Gene
- NCKIPSD
- Gene Name
- NCK interacting protein with SH3 domain
There are no transcripts associated with this gene.
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