Product Details

SNP ID
rs185463968
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:4544698 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTTGCCATTAATTATATCCAGC[A/T]TGATTACAGGTACCTTGAGAAAACA
Phenotype
MIM: 133550
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SLC1A1 PubMed Links

Gene Details

Gene
SLC1A1
Gene Name
solute carrier family 1 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004170.5 496 Missense Mutation ATG,TTG M75L NP_004161.4
XM_011518007.1 496 Missense Mutation ATG,TTG M98L XP_011516309.1
XM_011518008.2 496 Missense Mutation ATG,TTG M78L XP_011516310.1
XM_011518009.2 496 Missense Mutation ATG,TTG M55L XP_011516311.1
XM_011518010.1 496 Intron XP_011516312.1
XM_017015042.1 496 Missense Mutation ATG,TTG M98L XP_016870531.1
XM_017015043.1 496 Missense Mutation ATG,TTG M75L XP_016870532.1
Gene
SPATA6L
Gene Name
spermatogenesis associated 6 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039395.3 496 Intron NP_001034484.3
XM_006716795.2 496 Intron XP_006716858.1
XM_006716798.3 496 Intron XP_006716861.1
XM_006716799.3 496 Intron XP_006716862.1
XM_006716800.2 496 Intron XP_006716863.1
XM_006716801.2 496 Intron XP_006716864.1
XM_011517952.1 496 Intron XP_011516254.1
XM_011517954.1 496 Intron XP_011516256.1
XM_011517956.1 496 Intron XP_011516258.1
XM_011517957.1 496 Intron XP_011516259.1
XM_011517958.1 496 Intron XP_011516260.1
XM_017014881.1 496 Intron XP_016870370.1
XM_017014882.1 496 Intron XP_016870371.1
XM_017014883.1 496 Intron XP_016870372.1
XM_017014884.1 496 Intron XP_016870373.1
XM_017014885.1 496 Intron XP_016870374.1
XM_017014886.1 496 Intron XP_016870375.1
XM_017014887.1 496 Intron XP_016870376.1

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