Product Details

SNP ID

rs140690062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:111776561 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAATTTCACTTTGAGAACAGGCCT[C/T]TGCTTTCCCTTTCTCCATCTGAGAA

Phenotype

MIM: 300334

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TRPC5 PubMed Links

Gene Details

Gene

TRPC5

Gene Name

transient receptor potential cation channel subfamily C member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012471.2	3883	Missense Mutation	AAG,GAG	K892E	NP_036603.1
XM_017029774.1	3883	Missense Mutation	AAG,GAG	K892E	XP_016885263.1

View Full Product Details