Product Details

SNP ID

rs144617859

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:156737653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCCCTCACTCTCACCAATCCA[C/T]GTTTCAGGGACGATGCCATCAGCTC

Phenotype

MIM: 600339 MIM: 611930 MIM: 611836

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HDGF PubMed Links

Gene Details

Gene

HDGF

Gene Name

hepatoma-derived growth factor

There are no transcripts associated with this gene.

Gene

ISG20L2

Gene Name

interferon stimulated exonuclease gene 20 like 2

There are no transcripts associated with this gene.

Gene

MRPL24

Gene Name

mitochondrial ribosomal protein L24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024540.3	757	Silent Mutation	ACA,ACG	T169T	NP_078816.2
NM_145729.2	757	Silent Mutation	ACA,ACG	T169T	NP_663781.1
XM_011509981.2	757	Silent Mutation	ACA,ACG	T169T	XP_011508283.1
XM_011509982.2	757	Silent Mutation	ACA,ACG	T169T	XP_011508284.1

Gene

RRNAD1

Gene Name

ribosomal RNA adenine dimethylase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142560.1	757	Intron			NP_001136032.1
NM_015997.3	757	Intron			NP_057081.3
XM_005245234.4	757	Intron			XP_005245291.1
XM_005245235.4	757	Intron			XP_005245292.1
XM_005245236.4	757	Intron			XP_005245293.1
XM_005245237.4	757	Intron			XP_005245294.1
XM_011509600.1	757	Intron			XP_011507902.1
XM_017001404.1	757	Intron			XP_016856893.1
XM_017001405.1	757	Intron			XP_016856894.1
XM_017001406.1	757	Intron			XP_016856895.1

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