Product Details

SNP ID

rs201384498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61353072 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGCTCCAAAAAAGACGTGGATA[G/T]GTTTTAGGAGGCTGCGCAGCCACAT

Phenotype

MIM: 615844 MIM: 614459

Polymorphism

G/T, 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	1308	Missense Mutation	CAT,CCT	H154P	NP_001154924.1
NM_001161454.1	1308	Missense Mutation	CAT,CCT	H171P	NP_001154926.1
NM_001300763.1	1308	Missense Mutation	CAT,CCT	H154P	NP_001287692.1
NM_153611.4	1308	Missense Mutation	CAT,CCT	H154P	NP_705839.3
XM_011544821.1	1308	Missense Mutation	CAT,CCT	H171P	XP_011543123.1
XM_011544823.1	1308	Missense Mutation	CAT,CCT	H154P	XP_011543125.1
XM_011544824.1	1308	Silent Mutation	ACA,ACC	T190T	XP_011543126.1
XM_017017345.1	1308	Missense Mutation	CAT,CCT	H171P	XP_016872834.1
XM_017017346.1	1308	Missense Mutation	CAT,CCT	H154P	XP_016872835.1
XM_017017347.1	1308	Missense Mutation	CAT,CCT	H35P	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	1308	Intron			NP_056348.2
XM_011544912.2	1308	Intron			XP_011543214.1
XM_017017517.1	1308	Intron			XP_016873006.1
XM_017017518.1	1308	UTR 3			XP_016873007.1
XM_017017519.1	1308	Intron			XP_016873008.1
XM_017017520.1	1308	Intron			XP_016873009.1
XM_017017521.1	1308	Intron			XP_016873010.1
XM_017017522.1	1308	UTR 3			XP_016873011.1
XM_017017523.1	1308	Intron			XP_016873012.1
XM_017017524.1	1308	Intron			XP_016873013.1

Gene

TMEM138

Gene Name

transmembrane protein 138

There are no transcripts associated with this gene.

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