Product Details

SNP ID

rs28379361

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18568352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACATGGACAATAAGTCCTACATC[A/G]CAGAGCTTGGCAAGGTGACAAAACC

Phenotype

MIM: 615178 MIM: 191321

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KXD1 PubMed Links

Gene Details

Gene

KXD1

Gene Name

KxDL motif containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171948.1		Intron			NP_001165419.1
NM_001171949.1		Intron			NP_001165420.1
NM_024069.3		Intron			NP_076974.2
XM_005260073.4		Intron			XP_005260130.1
XM_006722883.2		Intron			XP_006722946.1
XM_011528272.2		Intron			XP_011526574.1
XM_011528273.2		Intron			XP_011526575.1
XM_017027281.1		Intron			XP_016882770.1
XM_017027282.1		Intron			XP_016882771.1

Gene

UBA52

Gene Name

ubiquitin A-52 residue ribosomal protein fusion product 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033930.2		Intron			NP_001029102.1
NM_001321017.1		Intron			NP_001307946.1
NM_001321018.1		Intron			NP_001307947.1
NM_001321019.1		Intron			NP_001307948.1
NM_001321020.1		Intron			NP_001307949.1
NM_001321021.1		Intron			NP_001307950.1
NM_001321022.1		Intron			NP_001307951.1
NM_003333.4		Intron			NP_003324.1
XM_005260052.2		Intron			XP_005260109.1
XM_005260053.3		Intron			XP_005260110.1
XM_005260054.2		Intron			XP_005260111.1
XM_006722871.2		Intron			XP_006722934.1
XM_017027198.1		Intron			XP_016882687.1

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