Product Details
- SNP ID
-
rs147755206
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:11558738 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCGTCCACGGAGCCCGTGATGGACA[C/G]GGAGTTGGGTGCCGGCTCGGGCTCC
- Phenotype
-
MIM: 608760
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ATG7
PubMed Links
Gene Details
- Gene
- ATG7
- Gene Name
- autophagy related 7
- Gene
- VGLL4
- Gene Name
- vestigial like family member 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001128219.2 |
1212 |
Missense Mutation |
CTG,GTG |
L237V |
NP_001121691.1 |
NM_001128220.2 |
1212 |
Missense Mutation |
CTG,GTG |
L151V |
NP_001121692.1 |
NM_001128221.2 |
1212 |
Missense Mutation |
CTG,GTG |
L147V |
NP_001121693.1 |
NM_001284390.1 |
1212 |
Missense Mutation |
CTG,GTG |
L236V |
NP_001271319.1 |
NM_001284391.1 |
1212 |
Missense Mutation |
CTG,GTG |
L172V |
NP_001271320.1 |
NM_014667.3 |
1212 |
Missense Mutation |
CTG,GTG |
L231V |
NP_055482.2 |
XM_011534267.2 |
1212 |
Missense Mutation |
CTG,GTG |
L232V |
XP_011532569.1 |
XM_011534268.1 |
1212 |
Missense Mutation |
CTG,GTG |
L172V |
XP_011532570.1 |
XM_011534269.1 |
1212 |
Missense Mutation |
CTG,GTG |
L172V |
XP_011532571.1 |
XM_017007541.1 |
1212 |
Missense Mutation |
CTG,GTG |
L236V |
XP_016863030.1 |
XM_017007542.1 |
1212 |
UTR 3 |
|
|
XP_016863031.1 |
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