Product Details

SNP ID
rs200990092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:4544657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTTTCCTGGAGAAATTCTAATGC[A/G]GATGCTGAAACTCATCATTTTGCCA
Phenotype
MIM: 133550
Polymorphism
A/G, Transition 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_004170.5 455 Missense Mutation CAG,CGG Q61R NP_004161.4
XM_011518007.1 455 Missense Mutation CAG,CGG Q84R XP_011516309.1
XM_011518008.2 455 Missense Mutation CAG,CGG Q64R XP_011516310.1
XM_011518009.2 455 Missense Mutation CAG,CGG Q41R XP_011516311.1
XM_011518010.1 455 Intron XP_011516312.1
XM_017015042.1 455 Missense Mutation CAG,CGG Q84R XP_016870531.1
XM_017015043.1 455 Missense Mutation CAG,CGG Q61R 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_001039395.3 455 Intron NP_001034484.3
XM_006716795.2 455 Intron XP_006716858.1
XM_006716798.3 455 Intron XP_006716861.1
XM_006716799.3 455 Intron XP_006716862.1
XM_006716800.2 455 Intron XP_006716863.1
XM_006716801.2 455 Intron XP_006716864.1
XM_011517952.1 455 Intron XP_011516254.1
XM_011517954.1 455 Intron XP_011516256.1
XM_011517956.1 455 Intron XP_011516258.1
XM_011517957.1 455 Intron XP_011516259.1
XM_011517958.1 455 Intron XP_011516260.1
XM_017014881.1 455 Intron XP_016870370.1
XM_017014882.1 455 Intron XP_016870371.1
XM_017014883.1 455 Intron XP_016870372.1
XM_017014884.1 455 Intron XP_016870373.1
XM_017014885.1 455 Intron XP_016870374.1
XM_017014886.1 455 Intron XP_016870375.1
XM_017014887.1 455 Intron XP_016870376.1

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