Product Details

SNP ID
rs147426380
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:156743865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGGGTTTTCTGCCTCCTTGGGA[C/T]GTTTAGGAGAGTCCTAGGCAGGATC
Phenotype
MIM: 600339 MIM: 611836
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HDGF PubMed Links

Gene Details

Gene
HDGF
Gene Name
hepatoma-derived growth factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126050.1 611 Missense Mutation CAT,CGT H184R NP_001119522.1
NM_001126051.1 611 Missense Mutation CAT,CGT H161R NP_001119523.1
NM_001319186.1 611 Missense Mutation CAT,CGT H191R NP_001306115.1
NM_001319187.1 611 Missense Mutation CAT,CGT H136R NP_001306116.1
NM_001319188.1 611 Missense Mutation CAT,CGT H136R NP_001306117.1
NM_004494.2 611 Missense Mutation CAT,CGT H168R NP_004485.1
XM_011509453.2 611 Missense Mutation CAT,CGT H136R XP_011507755.2
XM_011509454.2 611 Missense Mutation CAT,CGT H136R XP_011507756.1
XM_011509455.2 611 Missense Mutation CAT,CGT H136R XP_011507757.1
Gene
MRPL24
Gene Name
mitochondrial ribosomal protein L24
There are no transcripts associated with this gene.

Gene
RRNAD1
Gene Name
ribosomal RNA adenine dimethylase domain containing 1
There are no transcripts associated with this gene.

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