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See other C1ORF167 GT Assays ›
SNP ID:
rs1801133
Gene
C1orf167 CLCN6 MTHFR
Gene Name
Set Membership:
> HapMap > JSNP
Chromosome Location:
Chr.1: 11796321 - 11796321 on Build GRCh38
Polymorphism:
G/A, Transition substitution
Context Sequence [VIC/FAM]:

GAAAAGCTGCGTGATGATGAAATCG[G/A]CTCCCGCAGACACCTTCTCCTTCAA

Assay ID C___1202883_20
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 102 submissions

Phenotype:

 MIM: 602726 MIM: 607093

Literature Links:

 C1orf167 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.25)
(0.75)
Caucasian - Not Available CEPH (CEU)
T (0.31)
(0.69)
EAS
T (0.30)
(0.70)
African American - Not Available YRI (Yoruba)
T (0.09)
(0.91)
SAS
T (0.12)
(0.88)
Chinese - Not Available JPT (Japanese)
T (0.36)
(0.64)
AFR
T (0.09)
(0.91)
Japanese - Not Available CHB (Han Chinese)
C (0.49)
(0.51)
EUR
T (0.37)
(0.63)
AMR
T (0.47)
(0.53)
C1orf167 - chromosome 1 open reading frame 167
There are no transcripts associated with this gene.
CLCN6 - chloride voltage-gated channel 6
There are no transcripts associated with this gene.
MTHFR - methylenetetrahydrofolate reductase (NAD(P)H)
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_005957.4 1731 Missense Mutation GCC,GTC A,V 222 NP_005948.3
XM_005263458.3 1731 Missense Mutation GCC,GTC A,V 263 XP_005263515.1
XM_005263460.4 1731 Missense Mutation GCC,GTC A,V 222 XP_005263517.1
XM_005263462.4 1731 Missense Mutation GCC,GTC A,V 222 XP_005263519.1
XM_005263463.3 1731 Missense Mutation GCC,GTC A,V 140 XP_005263520.1
XM_011541495.2 1731 Missense Mutation GCC,GTC A,V 262 XP_011539797.1
XM_011541496.2 1731 Missense Mutation GCC,GTC A,V 263 XP_011539798.1
XM_017001328.1 1731 Missense Mutation GCC,GTC A,V 263 XP_016856817.1

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