Product Details

SNP ID

rs148963439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:22118963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCTCCTCACCATCTGGAGAAAG[C/T]GGCGGATGCGCTGGGCGTCCTGTGC

Phenotype

MIM: 602302 MIM: 615791

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HR PubMed Links

Gene Details

Gene

HR

Gene Name

hair growth associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005144.4	3865	Missense Mutation	CAC,CGC	H1067R	NP_005135.2
NM_018411.4	3865	Missense Mutation	CAC,CGC	H1067R	NP_060881.2
XM_005273569.1	3865	Missense Mutation	CAC,CGC	H1068R	XP_005273626.1
XM_006716367.1	3865	Missense Mutation	CAC,CGC	H1068R	XP_006716430.1

Gene

NUDT18

Gene Name

nudix hydrolase 18

There are no transcripts associated with this gene.

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