Product Details
- SNP ID
-
rs149070596
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:67263128 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTGACATTTCTGTAACAGATTCAC[A/G]TTGAGAAGTATTTAAATGTTGTAAA
- Phenotype
-
MIM: 614888
MIM: 612523
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AAGAB
PubMed Links
Gene Details
- Gene
- AAGAB
- Gene Name
- alpha- and gamma-adaptin binding protein
There are no transcripts associated with this gene.
- Gene
- IQCH
- Gene Name
- IQ motif containing H
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001031715.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
NP_001026885.1 |
NM_001284347.1 |
302 |
Intron |
|
|
NP_001271276.1 |
NM_001284348.1 |
302 |
Intron |
|
|
NP_001271277.1 |
NM_001284349.1 |
302 |
Intron |
|
|
NP_001271278.1 |
NM_001322470.1 |
302 |
Intron |
|
|
NP_001309399.1 |
NM_001322471.1 |
302 |
Intron |
|
|
NP_001309400.1 |
NM_001322472.1 |
302 |
Intron |
|
|
NP_001309401.1 |
NM_001322473.1 |
302 |
Intron |
|
|
NP_001309402.1 |
NM_001322474.1 |
302 |
Intron |
|
|
NP_001309403.1 |
NM_001322475.1 |
302 |
Intron |
|
|
NP_001309404.1 |
NM_022784.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
NP_073621.2 |
XM_011521907.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520209.1 |
XM_011521908.2 |
302 |
Intron |
|
|
XP_011520210.1 |
XM_011521911.2 |
302 |
Intron |
|
|
XP_011520213.1 |
XM_011521912.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520214.1 |
XM_011521913.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520215.1 |
XM_011521914.2 |
302 |
Intron |
|
|
XP_011520216.1 |
XM_011521915.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520217.1 |
XM_011521916.2 |
302 |
UTR 5 |
|
|
XP_011520218.1 |
XM_011521917.2 |
302 |
UTR 5 |
|
|
XP_011520219.1 |
XM_011521918.2 |
302 |
Intron |
|
|
XP_011520220.1 |
XM_011521922.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520224.1 |
XM_011521923.2 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_011520225.1 |
XM_017022491.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877980.1 |
XM_017022492.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877981.1 |
XM_017022493.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877982.1 |
XM_017022494.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877983.1 |
XM_017022495.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877984.1 |
XM_017022496.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877985.1 |
XM_017022497.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877986.1 |
XM_017022498.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877987.1 |
XM_017022499.1 |
302 |
Missense Mutation |
ATT,GTT |
I61V |
XP_016877988.1 |
XM_017022500.1 |
302 |
Intron |
|
|
XP_016877989.1 |
XM_017022501.1 |
302 |
Intron |
|
|
XP_016877990.1 |
XM_017022502.1 |
302 |
Intron |
|
|
XP_016877991.1 |
XM_017022503.1 |
302 |
Intron |
|
|
XP_016877992.1 |
XM_017022504.1 |
302 |
Intron |
|
|
XP_016877993.1 |
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