Product Details

SNP ID
rs142310829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144466443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGTACGCCTTTTACTCGTTGCT[C/T]ATCTACATCTTCTACAGCCTCTTCC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001129888.1 107 Intron NP_001123360.1
NM_032687.3 107 Intron NP_116076.1
NM_138496.1 107 Intron NP_612505.1
XM_006716560.3 107 Intron XP_006716623.1
XM_006716561.3 107 Intron XP_006716624.1
XM_006716562.3 107 Intron XP_006716625.2
XM_011517051.1 107 Intron XP_011515353.1
XM_017013463.1 107 Intron XP_016868952.1
XM_017013464.1 107 Intron XP_016868953.1
XM_017013465.1 107 Intron XP_016868954.1
XM_017013466.1 107 Intron XP_016868955.1
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_145754.3 107 Silent Mutation CTC,CTT L8L NP_665697.1
XM_005272357.3 107 Silent Mutation CTC,CTT L8L XP_005272414.1
XM_011517362.2 107 Silent Mutation CTC,CTT L8L XP_011515664.1

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