Product Details

SNP ID
rs7612954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:119703259 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGCAGACCTTCCTCCGCGTCCGTCG[A/C]CTCCTAGGCCAGGTGGGCTCCCAGA
Phenotype
MIM: 609910
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MAATS1 PubMed Links

Gene Details

Gene
MAATS1
Gene Name
MYCBP associated and testis expressed 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320316.1 238 Missense Mutation ACT,CCT T18P NP_001307245.1
NM_001320317.1 238 Intron NP_001307246.1
NM_001320318.1 238 Intron NP_001307247.1
NM_033364.3 238 Intron NP_203528.2
XM_011513277.1 238 Intron XP_011511579.1

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