Product Details

SNP ID

rs145298522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61353004 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCACAAACTGAAGAAAAGCTTCT[A/C]ATTAATGCCCGAAATGACGGATGCG

Phenotype

MIM: 615844 MIM: 614459

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CYB561A3 PubMed Links

Gene Details

Gene

CYB561A3

Gene Name

cytochrome b561 family member A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161452.1	1376	Nonsense Mutation	GAG,TAG	E177*	NP_001154924.1
NM_001161454.1	1376	Nonsense Mutation	GAG,TAG	E194*	NP_001154926.1
NM_001300763.1	1376	Nonsense Mutation	GAG,TAG	E177*	NP_001287692.1
NM_153611.4	1376	Nonsense Mutation	GAG,TAG	E177*	NP_705839.3
XM_011544821.1	1376	Nonsense Mutation	GAG,TAG	E194*	XP_011543123.1
XM_011544823.1	1376	Nonsense Mutation	GAG,TAG	E177*	XP_011543125.1
XM_011544824.1	1376	UTR 3			XP_011543126.1
XM_017017345.1	1376	Nonsense Mutation	GAG,TAG	E194*	XP_016872834.1
XM_017017346.1	1376	Nonsense Mutation	GAG,TAG	E177*	XP_016872835.1
XM_017017347.1	1376	Nonsense Mutation	GAG,TAG	E58*	XP_016872836.1

Gene

TKFC

Gene Name

triokinase and FMN cyclase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015533.3	1376	Intron			NP_056348.2
XM_011544912.2	1376	Intron			XP_011543214.1
XM_017017517.1	1376	Intron			XP_016873006.1
XM_017017518.1	1376	UTR 3			XP_016873007.1
XM_017017519.1	1376	Intron			XP_016873008.1
XM_017017520.1	1376	Intron			XP_016873009.1
XM_017017521.1	1376	Intron			XP_016873010.1
XM_017017522.1	1376	UTR 3			XP_016873011.1
XM_017017523.1	1376	Intron			XP_016873012.1
XM_017017524.1	1376	Intron			XP_016873013.1

Gene

TMEM138

Gene Name

transmembrane protein 138

There are no transcripts associated with this gene.

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