Product Details

SNP ID
rs138373210
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:109494263 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTTGGGCTTCACCATCTTTCTG[A/G]CAGCGCTGTCCCGGCCAGGAACCAG
Phenotype
MIM: 615689
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMIGO1 PubMed Links

Gene Details

Gene
AMIGO1
Gene Name
adhesion molecule with Ig like domain 1
There are no transcripts associated with this gene.

Gene
ATXN7L2
Gene Name
ataxin 7 like 2
There are no transcripts associated with this gene.

Gene
CYB561D1
Gene Name
cytochrome b561 family member D1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134400.1 185 Missense Mutation ACA,GCA T42A NP_001127872.1
NM_001134402.1 185 Intron NP_001127874.1
NM_001134403.1 185 Missense Mutation ACA,GCA T42A NP_001127875.1
NM_001134404.1 185 Missense Mutation ACA,GCA T42A NP_001127876.1
NM_182580.2 185 Missense Mutation ACA,GCA T42A NP_872386.1
XM_005270775.2 185 UTR 5 XP_005270832.1
XM_005270776.3 185 Intron XP_005270833.1
XM_005270777.2 185 UTR 5 XP_005270834.1
XM_011541286.2 185 Intron XP_011539588.1
XM_011541287.2 185 Intron XP_011539589.2
XM_017001078.1 185 Intron XP_016856567.1
XM_017001079.1 185 Intron XP_016856568.1

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