Product Details
- SNP ID
-
rs147371406
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:52501228 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCACTCATGTACCCTGCACCTCGTG[C/T]GCGGCCATCAAGAAGCAGACGTGTC
- Phenotype
-
MIM: 615507
MIM: 608560
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NISCH
PubMed Links
Gene Details
- Gene
- NISCH
- Gene Name
- nischarin
There are no transcripts associated with this gene.
- Gene
- STAB1
- Gene Name
- stabilin 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_015136.2 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
NP_055951.2 |
| XM_005264973.3 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_005265030.1 |
| XM_005264974.2 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_005265031.1 |
| XM_006713065.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_006713128.1 |
| XM_017005998.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861487.1 |
| XM_017005999.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861488.1 |
| XM_017006000.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861489.1 |
| XM_017006001.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861490.1 |
| XM_017006002.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861491.1 |
| XM_017006003.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861492.1 |
| XM_017006004.1 |
217 |
Silent Mutation |
TGC,TGT |
C47C |
XP_016861493.1 |
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