Product Details

SNP ID
rs1129115
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.18:12329537 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
ATGCACCAGCTGAAACCACAGTGGA[C/G]AGACTGAGATGGCCTCCCTCTGGGC
Phenotype
MIM: 604581 MIM: 615103
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AFG3L2 PubMed Links

Gene Details

Gene
AFG3L2
Gene Name
AFG3 like matrix AAA peptidase subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006796.2 903 UTR 3 NP_006787.2
XM_011525601.2 903 UTR 3 XP_011523903.1
Gene
TUBB6
Gene Name
tubulin beta 6 class V
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303524.1 903 Intron NP_001290453.1
NM_001303525.1 903 UTR 3 NP_001290454.1
NM_001303526.1 903 Intron NP_001290455.1
NM_001303527.1 903 Intron NP_001290456.1
NM_001303528.1 903 Intron NP_001290457.1
NM_001303529.1 903 Intron NP_001290458.1
NM_001303530.1 903 Intron NP_001290459.1
NM_032525.2 903 Intron NP_115914.1

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