Product Details

SNP ID

rs138236983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33412289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCGCAGCCCCCCCGGCTGAGCC[A/G]CTCTGGTGCCTCCTCACTTTGGGAC

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	179	Missense Mutation	CAC,CGC	H9R	NP_002627.1
NM_024165.2	179	Missense Mutation	CAC,CGC	H9R	NP_077084.1
XM_011514662.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512964.1
XM_011514663.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512965.1
XM_011514664.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512966.1
XM_011514665.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512967.1
XM_011514666.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512968.1
XM_011514669.1	179	Missense Mutation	CAC,CGC	H9R	XP_011512971.1
XM_011514670.2	179	Missense Mutation	CAC,CGC	H9R	XP_011512972.1
XM_017010939.1	179	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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