Product Details

SNP ID
rs138574267
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33416681 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGACTGTGATAGAGTCAGAAACT[C/G]ACTCTGTGACCTGGCGCACCCACTG
Phenotype
MIM: 616953 MIM: 603763 MIM: 602881 MIM: 603384
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CUTA PubMed Links

Gene Details

Gene
CUTA
Gene Name
cutA divalent cation tolerance homolog (E. coli)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014433.2 1060 Nonsense Mutation TCA,TGA S189* NP_001014433.1
NM_001014837.1 1060 Nonsense Mutation TCA,TGA S147* NP_001014837.1
NM_001014838.1 1060 Nonsense Mutation TCA,TGA S147* NP_001014838.1
NM_001014840.1 1060 Nonsense Mutation TCA,TGA S170* NP_001014840.1
NM_015921.2 1060 Nonsense Mutation TCA,TGA S147* NP_057005.1
Gene
KIFC1
Gene Name
kinesin family member C1
There are no transcripts associated with this gene.

Gene
PHF1
Gene Name
PHD finger protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002636.4 1060 Intron NP_002627.1
NM_024165.2 1060 Intron NP_077084.1
XM_011514662.1 1060 Intron XP_011512964.1
XM_011514663.1 1060 Intron XP_011512965.1
XM_011514664.1 1060 Intron XP_011512966.1
XM_011514665.1 1060 Intron XP_011512967.1
XM_011514666.1 1060 Intron XP_011512968.1
XM_011514669.1 1060 Intron XP_011512971.1
XM_011514670.2 1060 Intron XP_011512972.1
XM_017010939.1 1060 Intron XP_016866428.1
Gene
SYNGAP1
Gene Name
synaptic Ras GTPase activating protein 1
There are no transcripts associated with this gene.

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