Product Details

SNP ID
rs199705559
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7855113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGGGCACAGCGAGCGGTTCCTGG[G/T]GACGGCCCAGAGCCCCGGGACCCCC
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
There are no transcripts associated with this gene.

Gene
KDM6B
Gene Name
lysine demethylase 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080424.1 48 Intron NP_001073893.1
XM_005256549.3 48 Intron XP_005256606.1
XM_005256550.4 48 Intron XP_005256607.1
XM_005256551.3 48 Intron XP_005256608.1
XM_005256552.4 48 Intron XP_005256609.1
XM_006721483.3 48 Intron XP_006721546.1
XM_011523750.2 48 Intron XP_011522052.1
XM_011523752.2 48 Intron XP_011522054.1
XM_017024381.1 48 Intron XP_016879870.1
Gene
NAA38
Gene Name
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
There are no transcripts associated with this gene.

Gene
TMEM88
Gene Name
transmembrane protein 88
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319941.1 48 Silent Mutation GGG,GGT G13G NP_001306870.1
NM_203411.1 48 Silent Mutation GGG,GGT G13G NP_981956.1
XM_005256856.3 48 Silent Mutation GGG,GGT G13G XP_005256913.1

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