Product Details
- SNP ID
-
rs11558400
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:44207754 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTGGGGTTTGGGCCTCGCAGCTTG[A/G]TCATGCTCTTACGTTTCTGCAGGAT
- Phenotype
-
MIM: 600673
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATXN7L3
PubMed Links
Gene Details
- Gene
- ATXN7L3
- Gene Name
- ataxin 7 like 3
There are no transcripts associated with this gene.
- Gene
- LOC101926967
- Gene Name
- uncharacterized LOC101926967
There are no transcripts associated with this gene.
- Gene
- MIR6782
- Gene Name
- microRNA 6782
There are no transcripts associated with this gene.
- Gene
- UBTF
- Gene Name
- upstream binding transcription factor, RNA polymerase I
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001076683.1 |
2206 |
Missense Mutation |
ACC,ATC |
T620I |
NP_001070151.1 |
NM_001076684.2 |
2206 |
Missense Mutation |
ACC,ATC |
T620I |
NP_001070152.1 |
NM_014233.3 |
2206 |
Missense Mutation |
ACC,ATC |
T657I |
NP_055048.1 |
XM_006722059.3 |
2206 |
Missense Mutation |
ACC,ATC |
T657I |
XP_006722122.1 |
XM_006722060.2 |
2206 |
Intron |
|
|
XP_006722123.1 |
XM_006722061.2 |
2206 |
Intron |
|
|
XP_006722124.1 |
XM_017024995.1 |
2206 |
Missense Mutation |
ACC,ATC |
T674I |
XP_016880484.1 |
XM_017024996.1 |
2206 |
Missense Mutation |
ACC,ATC |
T674I |
XP_016880485.1 |
XM_017024997.1 |
2206 |
Missense Mutation |
ACC,ATC |
T674I |
XP_016880486.1 |
XM_017024998.1 |
2206 |
Missense Mutation |
ACC,ATC |
T674I |
XP_016880487.1 |
XM_017024999.1 |
2206 |
Missense Mutation |
ACC,ATC |
T674I |
XP_016880488.1 |
XM_017025000.1 |
2206 |
Missense Mutation |
ACC,ATC |
T637I |
XP_016880489.1 |
XM_017025001.1 |
2206 |
Missense Mutation |
ACC,ATC |
T637I |
XP_016880490.1 |
XM_017025002.1 |
2206 |
Missense Mutation |
ACC,ATC |
T637I |
XP_016880491.1 |
XM_017025003.1 |
2206 |
Missense Mutation |
ACC,ATC |
T620I |
XP_016880492.1 |
XM_017025004.1 |
2206 |
Missense Mutation |
ACC,ATC |
T620I |
XP_016880493.1 |
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