Product Details

SNP ID

rs144173743

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:169397256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTACTGTTTAAAGGCCCTTTCCC[A/G]GCCTTCTGTTCCTTTAAGGAAGAAT

Phenotype

MIM: 608692

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BLZF1 PubMed Links

Gene Details

Gene

BLZF1

Gene Name

basic leucine zipper nuclear factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320972.1	1540	Intron			NP_001307901.1
NM_001320973.1	1540	Intron			NP_001307902.1
NM_003666.3	1540	Intron			NP_003657.1
XM_005245561.4	1540	Intron			XP_005245618.1
XM_011510092.2	1540	Intron			XP_011508394.1
XM_017002645.1	1540	Intron			XP_016858134.1

Gene

CCDC181

Gene Name

coiled-coil domain containing 181

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300968.1	1540	Missense Mutation	CGG,TGG	R450W	NP_001287897.1
NM_001300969.1	1540	Missense Mutation	CGG,TGG	R451W	NP_001287898.1
NM_021179.2	1540	Missense Mutation	CGG,TGG	R450W	NP_067002.1
XM_005245383.1	1540	Missense Mutation	CGG,TGG	R451W	XP_005245440.1
XM_011509827.2	1540	Missense Mutation	CGG,TGG	R451W	XP_011508129.1
XM_017001938.1	1540	Missense Mutation	CGG,TGG	R451W	XP_016857427.1
XM_017001939.1	1540	Missense Mutation	CGG,TGG	R451W	XP_016857428.1
XM_017001940.1	1540	Missense Mutation	CGG,TGG	R450W	XP_016857429.1

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