Product Details

SNP ID

rs188883311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144474857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAAGCCCTCACTGGGTGGTGGC[C/G]GGGGACTGGGCGGCCGGTATGGCCG

Phenotype

MIM: 616635 MIM: 603621 MIM: 615216 MIM: 609172

Polymorphism

C/G, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003923.2	1058	Missense Mutation	CCG,CGG	P160R	NP_003914.1

Gene

KIFC2

Gene Name

kinesin family member C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145754.3	1058	Intron			NP_665697.1
XM_005272357.3	1058	Intron			XP_005272414.1
XM_011517362.2	1058	Intron			XP_011515664.1

Gene

PPP1R16A

Gene Name

protein phosphatase 1 regulatory subunit 16A

There are no transcripts associated with this gene.

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