Product Details

SNP ID

rs201399798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33414340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGATCCTCCCCTTCACTTCTGAG[A/G]ATTGGGACAGTTTGCTCCTGGGGGA

Phenotype

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

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CUTA PubMed Links

Gene Details

Gene

CUTA

Gene Name

cutA divalent cation tolerance homolog (E. coli)

There are no transcripts associated with this gene.

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	907	Missense Mutation	AAT,GAT	N284D	NP_002627.1
NM_024165.2	907	Missense Mutation	AAT,GAT	N284D	NP_077084.1
XM_011514662.1	907	Missense Mutation	AAT,GAT	N284D	XP_011512964.1
XM_011514663.1	907	Missense Mutation	AAT,GAT	N284D	XP_011512965.1
XM_011514664.1	907	Missense Mutation	AAT,GAT	N252D	XP_011512966.1
XM_011514665.1	907	Missense Mutation	AAT,GAT	N284D	XP_011512967.1
XM_011514666.1	907	Missense Mutation	AAT,GAT	N284D	XP_011512968.1
XM_011514669.1	907	Missense Mutation	AAT,GAT	N284D	XP_011512971.1
XM_011514670.2	907	Missense Mutation	AAT,GAT	N284D	XP_011512972.1
XM_017010939.1	907	Silent Mutation	AGA,AGG	R54R	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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