Product Details

SNP ID: rs144941102
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7856840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACACGGGGCTCCCCGGCAGAGAAG[G/T]AATCTGGAAAGAAGGATCAGAGCAT
Phenotype: MIM: 611577
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: CYB5D1 PubMed Links

Gene Details

Gene: CYB5D1
Gene Name: cytochrome b5 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005256440.3	503	Intron			XP_005256497.1
XM_011523638.2	503	Intron			XP_011521940.1

Gene: KDM6B
Gene Name: lysine demethylase 6B

There are no transcripts associated with this gene.

Gene: NAA38
Gene Name: N(alpha)-acetyltransferase 38, NatC auxiliary subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011524037.2	503	Missense Mutation	TAC,TCC	Y74S	XP_011522339.1
XM_017025225.1	503	Missense Mutation	TAC,TCC	Y74S	XP_016880714.1
XM_017025226.1	503	Missense Mutation	TAC,TCC	Y64S	XP_016880715.1

Gene: TMEM88
Gene Name: transmembrane protein 88

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319941.1	503	Intron			NP_001306870.1
NM_203411.1	503	Intron			NP_981956.1
XM_005256856.3	503	Intron			XP_005256913.1

View Full Product Details