Product Details

SNP ID

rs199741480

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33416687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGATAGAGTCAGAAACTGACTCT[C/G]TGACCTGGCGCACCCACTGCAGGTA

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	1054	Missense Mutation	ACA,AGA	T187R	NP_001014433.1
NM_001014837.1	1054	Missense Mutation	ACA,AGA	T145R	NP_001014837.1
NM_001014838.1	1054	Missense Mutation	ACA,AGA	T145R	NP_001014838.1
NM_001014840.1	1054	Missense Mutation	ACA,AGA	T168R	NP_001014840.1
NM_015921.2	1054	Missense Mutation	ACA,AGA	T145R	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	1054	Intron			NP_002627.1
NM_024165.2	1054	Intron			NP_077084.1
XM_011514662.1	1054	Intron			XP_011512964.1
XM_011514663.1	1054	Intron			XP_011512965.1
XM_011514664.1	1054	Intron			XP_011512966.1
XM_011514665.1	1054	Intron			XP_011512967.1
XM_011514666.1	1054	Intron			XP_011512968.1
XM_011514669.1	1054	Intron			XP_011512971.1
XM_011514670.2	1054	Intron			XP_011512972.1
XM_017010939.1	1054	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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