Product Details

SNP ID
rs200557529
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:2317924 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGTTCCTGATGCTTTAGAAAGG[A/C]AGCCGAAAGCTGTTGTTACTCACAG
Phenotype
MIM: 606477 MIM: 611214
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SRR PubMed Links

Gene Details

Gene
SRR
Gene Name
serine racemase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304803.1 1512 UTR 5 NP_001291732.1
NM_021947.2 1512 Missense Mutation AAG,CAG K75Q NP_068766.1
XM_006721565.3 1512 Missense Mutation AAG,CAG K75Q XP_006721628.1
XM_006721566.3 1512 Missense Mutation AAG,CAG K75Q XP_006721629.1
XM_011523974.2 1512 Missense Mutation AAG,CAG K75Q XP_011522276.1
Gene
TSR1
Gene Name
TSR1, ribosome maturation factor
There are no transcripts associated with this gene.

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