Product Details

SNP ID

rs2250891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144467002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGTCGGAAGGCGCAGCCGAGGG[C/T]CGCGCGGCCGCGGTGTCCCTGGAAG

Phenotype

MIM: 616635 MIM: 603621 MIM: 615216

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYHR1 PubMed Links

Gene Details

Gene

CYHR1

Gene Name

cysteine and histidine rich 1

There are no transcripts associated with this gene.

Gene

FOXH1

Gene Name

forkhead box H1

There are no transcripts associated with this gene.

Gene

KIFC2

Gene Name

kinesin family member C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145754.3	305	Silent Mutation	GGC,GGT	G74G	NP_665697.1
XM_005272357.3	305	Silent Mutation	GGC,GGT	G74G	XP_005272414.1
XM_011517362.2	305	Silent Mutation	GGC,GGT	G74G	XP_011515664.1

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