Product Details
- SNP ID
-
rs180715438
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:57096904 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGGCTCAGGCAGCTGTCTTCCACC[A/G]TGGTCACATCTGAGCAGAGCAGGGG
- Phenotype
-
MIM: 602381
MIM: 616496
MIM: 601512
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NAB2
PubMed Links
Gene Details
- Gene
- NAB2
- Gene Name
- NGFI-A binding protein 2
There are no transcripts associated with this gene.
- Gene
- NEMP1
- Gene Name
- nuclear envelope integral membrane protein 1
There are no transcripts associated with this gene.
- Gene
- STAT6
- Gene Name
- signal transducer and activator of transcription 6
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001178078.1 |
2680 |
Missense Mutation |
ACG,ATG |
T767M |
NP_001171549.1 |
NM_001178079.1 |
2680 |
Missense Mutation |
ACG,ATG |
T767M |
NP_001171550.1 |
NM_001178080.1 |
2680 |
Missense Mutation |
ACG,ATG |
T657M |
NP_001171551.1 |
NM_001178081.1 |
2680 |
Missense Mutation |
ACG,ATG |
T657M |
NP_001171552.1 |
NM_003153.4 |
2680 |
Missense Mutation |
ACG,ATG |
T767M |
NP_003144.3 |
XM_006719575.2 |
2680 |
Missense Mutation |
ACG,ATG |
T767M |
XP_006719638.1 |
XM_011538703.2 |
2680 |
Missense Mutation |
ACG,ATG |
T785M |
XP_011537005.1 |
XM_011538704.2 |
2680 |
Missense Mutation |
ACG,ATG |
T785M |
XP_011537006.1 |
XM_011538705.2 |
2680 |
Missense Mutation |
ACG,ATG |
T785M |
XP_011537007.1 |
XM_011538706.2 |
2680 |
Missense Mutation |
ACG,ATG |
T785M |
XP_011537008.1 |
XM_011538707.2 |
2680 |
Missense Mutation |
ACG,ATG |
T785M |
XP_011537009.1 |
XM_011538708.2 |
2680 |
Missense Mutation |
ACG,ATG |
T675M |
XP_011537010.1 |
XM_011538709.2 |
2680 |
Missense Mutation |
ACG,ATG |
T675M |
XP_011537011.1 |
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