Product Details
- SNP ID
-
rs140914074
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:109487024 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGTGACAGAAAGAAGACATGGGCCC[A/C]TCAGCAAGCTTTATGGCCGGGCCCC
- Phenotype
-
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ATXN7L2
PubMed Links
Gene Details
- Gene
- ATXN7L2
- Gene Name
- ataxin 7 like 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_153340.4 |
331 |
Missense Mutation |
ATC,CTC |
I106L |
NP_699171.3 |
XM_005270445.3 |
331 |
Missense Mutation |
ATC,CTC |
I106L |
XP_005270502.1 |
XM_005270446.2 |
331 |
Missense Mutation |
ATC,CTC |
I106L |
XP_005270503.1 |
XM_011540638.2 |
331 |
Missense Mutation |
ATC,CTC |
I84L |
XP_011538940.1 |
XM_011540639.2 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_011538941.1 |
XM_011540641.2 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_011538943.1 |
XM_011540644.2 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_011538946.1 |
XM_011540645.1 |
331 |
UTR 5 |
|
|
XP_011538947.1 |
XM_011540646.2 |
331 |
Missense Mutation |
ATC,CTC |
I106L |
XP_011538948.1 |
XM_017000267.1 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_016855756.1 |
XM_017000268.1 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_016855757.1 |
XM_017000269.1 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_016855758.1 |
XM_017000270.1 |
331 |
Missense Mutation |
ATC,CTC |
I48L |
XP_016855759.1 |
- Gene
- CYB561D1
- Gene Name
- cytochrome b561 family member D1
There are no transcripts associated with this gene.
- Gene
- SYPL2
- Gene Name
- synaptophysin like 2
There are no transcripts associated with this gene.
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