Product Details

SNP ID
rs200761348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42417880 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGCCCAGCCACAGGGACGGTCA[C/T]GAACCAGGCCACGAAGATGTTCCGA
Phenotype
MIM: 158378
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SLC20A2 PubMed Links

Gene Details

Gene
SLC20A2
Gene Name
solute carrier family 20 member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257180.1 2314 Missense Mutation ATG,GTG M628V NP_001244109.1
NM_001257181.1 2314 Missense Mutation ATG,GTG M628V NP_001244110.1
NM_006749.4 2314 Missense Mutation ATG,GTG M628V NP_006740.1
XM_005273613.3 2314 Missense Mutation ATG,GTG M628V XP_005273670.1
XM_005273615.3 2314 UTR 3 XP_005273672.1
XM_006716390.3 2314 Missense Mutation ATG,GTG M581V XP_006716453.1
XM_006716391.3 2314 Missense Mutation ATG,GTG M491V XP_006716454.1
XM_017013748.1 2314 Missense Mutation ATG,GTG M628V XP_016869237.1
XM_017013749.1 2314 Missense Mutation ATG,GTG M581V XP_016869238.1
XM_017013750.1 2314 Missense Mutation ATG,GTG M491V XP_016869239.1
XM_017013751.1 2314 Missense Mutation ATG,GTG M491V XP_016869240.1
XM_017013752.1 2314 Missense Mutation ATG,GTG M491V XP_016869241.1

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