Product Details

SNP ID

rs148728644

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7855270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCACCATGCTGGGCTTCGGCTTC[C/G]TCTGCCACTCTCAGGTGAGCGTGCG

Phenotype

MIM: 611577

Polymorphism

C/G, 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	205	Intron			NP_001073893.1
XM_005256549.3	205	Intron			XP_005256606.1
XM_005256550.4	205	Intron			XP_005256607.1
XM_005256551.3	205	Intron			XP_005256608.1
XM_005256552.4	205	Intron			XP_005256609.1
XM_006721483.3	205	Intron			XP_006721546.1
XM_011523750.2	205	Intron			XP_011522052.1
XM_011523752.2	205	Intron			XP_011522054.1
XM_017024381.1	205	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	205	Missense Mutation	CTC,GTC	L66V	NP_001306870.1
NM_203411.1	205	Missense Mutation	CTC,GTC	L66V	NP_981956.1
XM_005256856.3	205	Missense Mutation	CTC,GTC	L66V	XP_005256913.1

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