Product Details

SNP ID

rs79340044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41828839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACACGATGTGGATGTTGGGGTGG[A/G]ACACTTTCATCTGTCGGATAATTTC

Phenotype

MIM: 607063 MIM: 608778

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FKBP10 PubMed Links

Gene Details

Gene

FKBP10

Gene Name

FK506 binding protein 10

There are no transcripts associated with this gene.

Gene

KLHL10

Gene Name

kelch like family member 10

There are no transcripts associated with this gene.

Gene

NT5C3B

Gene Name

5'-nucleotidase, cytosolic IIIB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052935.4	596	Missense Mutation	TCC,TTC	S173F	NP_443167.4
XM_006721669.3	596	Missense Mutation	TCC,TTC	S130F	XP_006721732.1
XM_006721670.3	596	Missense Mutation	TCC,TTC	S130F	XP_006721733.1
XM_011524276.2	596	Missense Mutation	TCC,TTC	S173F	XP_011522578.1
XM_011524277.2	596	Missense Mutation	TCC,TTC	S165F	XP_011522579.1
XM_017024127.1	596	Intron			XP_016879616.1

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