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SNP ID:
rs4231
Gene
CUTA KIFC1 PHF1 SYNGAP1
Gene Name
cutA divalent cation tolerance homolog (E. coli)
kinesin family member C1
PHD finger protein 1
synaptic Ras GTPase activating protein 1
Set Membership:
> HapMap
Chromosome Location:
Chr.6: 33416197 - 33416197 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

AGCTGGGATGTACCTGGAGAGATAG[C/G]GGGTAGTTCTCCCTACTGCCCAGGC

Assay ID C___7515638_10
Size
Availability Made To Order
Catalog # 4351379
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details



Species:

Human

dbSNP Submissions:

NA

Phenotype:

MIM: 616953 MIM: 603763 MIM: 602881 MIM: 603384

Literature Links:

CUTA PubMed Links

Allele Nomenclature:

Minor Allele Frequency:

1000Genome Applied Biosystems® HapMap
Global
G (0.05)
(0.95)
Caucasian - Not Available CEPH (CEU)
G (0.12)
(0.88)
EAS
G (0.02)
(0.98)
African American - Not Available YRI (Yoruba) - Not Available
SAS
G (0.06)
(0.94)
Chinese - Not Available JPT (Japanese)
C (0.04)
(0.96)
AFR
G (0.01)
(0.99)
Japanese - Not Available CHB (Han Chinese)
G (0.01)
(0.99)
EUR
C (0.11)
(0.89)
AMR
G (0.09)
(0.91)
CUTA - cutA divalent cation tolerance homolog (E. coli)
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001014433.2 1860 Intron NP_001014433.1
NM_001014837.1 1860 Intron NP_001014837.1
NM_001014838.1 1860 Intron NP_001014838.1
NM_001014840.1 1860 Intron NP_001014840.1
NM_015921.2 1860 Intron NP_057005.1
KIFC1 - kinesin family member C1
There are no transcripts associated with this gene.
PHF1 - PHD finger protein 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_002636.4 1860 UTR 3 NP_002627.1
NM_024165.2 1860 UTR 3 NP_077084.1
XM_011514662.1 1860 UTR 3 XP_011512964.1
XM_011514663.1 1860 UTR 3 XP_011512965.1
XM_011514664.1 1860 UTR 3 XP_011512966.1
XM_011514665.1 1860 UTR 3 XP_011512967.1
XM_011514666.1 1860 UTR 3 XP_011512968.1
XM_011514669.1 1860 UTR 3 XP_011512971.1
XM_011514670.2 1860 Intron XP_011512972.1
XM_017010939.1 1860 UTR 3 XP_016866428.1
SYNGAP1 - synaptic Ras GTPase activating protein 1
There are no transcripts associated with this gene.

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More Information


Set Membership:

HapMap

Panther Classification:

Molecular Function -

primary active transporter chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Function(s) Process(es)

protein localization
response to metal ion
transcription, DNA-templated
regulation of transcription, DNA-templated
cellular response to DNA damage stimulus
covalent chromatin modification
negative regulation of gene expression, epigenetic
negative regulation of histone H3-K27 methylation
positive regulation of histone H3-K27 methylation
copper ion binding
protein binding
enzyme binding
transcription factor activity, sequence-specific DNA binding
zinc ion binding
methylated histone binding

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