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SNP ID:
rs2282143
Gene
SLC22A1
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.6: 160136611 - 160136611 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

TCATTTGCAGACCTGTTCCGCACGC[C/T]GCGCCTGAGGAAGCGCACCTTCATC

Assay ID C__15877554_40
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 602607

Literature Links:

 SLC22A1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.07)
(0.93)
Caucasian
T (0.00)
(1.00)
CEPH (CEU) - Not Available
EAS
T (0.13)
(0.87)
African American
T (0.10)
(0.90)
YRI (Yoruba)
T (0.08)
(0.92)
SAS
T (0.08)
(0.92)
Japanese
T (0.12)
(0.88)
JPT (Japanese)
T (0.13)
(0.87)
AFR
T (0.08)
(0.92)
Chinese
T (0.16)
(0.84)
CHB (Han Chinese)
T (0.19)
(0.81)
EUR
T (0.01)
(0.99)
AMR
T (0.02)
(0.98)
SLC22A1 - solute carrier family 22 member 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_003057.2 1169 Missense Mutation CCG,CTG P,L 341 NP_003048.1
NM_153187.1 1169 Missense Mutation CCG,CTG P,L 341 NP_694857.1
XM_005267102.4 1169 Missense Mutation CCG,CTG P,L 341 XP_005267159.1
XM_005267103.1 1169 Missense Mutation CCG,CTG P,L 341 XP_005267160.1
XM_005267104.4 1169 Missense Mutation CCG,CTG P,L 149 XP_005267161.1
XM_005267105.4 1169 Missense Mutation CCG,CTG P,L 149 XP_005267162.1
XM_006715552.1 1169 Missense Mutation CCG,CTG P,L 341 XP_006715615.1
XM_011536074.2 1169 Missense Mutation CCG,CTG P,L 149 XP_011534376.1

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