Product Details
- SNP ID
-
rs113101588
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:46512581 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTCAGTCGTTGGGTTTGCACGAGG[C/T]GTCCTTTCTCAATGTTAAACTCTTC
- Phenotype
-
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ATP6V1E2
PubMed Links
Gene Details
- Gene
- ATP6V1E2
- Gene Name
- ATPase H+ transporting V1 subunit E2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001318063.1 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
NP_001304992.1 |
XM_005264633.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_005264690.1 |
XM_005264634.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_005264691.1 |
XM_011533148.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531450.1 |
XM_011533149.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531451.1 |
XM_011533150.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531452.1 |
XM_011533151.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531453.1 |
XM_011533152.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531454.1 |
XM_011533153.2 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_011531455.1 |
XM_017005225.1 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_016860714.1 |
XM_017005226.1 |
1576 |
Missense Mutation |
CAC,CGC |
H44R |
XP_016860715.1 |
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