Product Details

SNP ID

rs201871067

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24038503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGCCTGGAATAGTGACTTTTCTC[A/G]TCATGGTAACTGCCTTCTTAAAGGT

Phenotype

MIM: 600620 MIM: 616234

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FKBP1B PubMed Links

Gene Details

Gene

FKBP1B

Gene Name

FK506 binding protein 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322963.1	1123	Intron			NP_001309892.1
NM_001322964.1	1123	Intron			NP_001309893.1
NM_004116.4	1123	Intron			NP_004107.1
NM_054033.3	1123	Intron			NP_473374.1
XM_011532699.2	1123	Intron			XP_011531001.1
XM_017003593.1	1123	Intron			XP_016859082.1
XM_017003594.1	1123	Intron			XP_016859083.1
XM_017003595.1	1123	Intron			XP_016859084.1
XM_017003596.1	1123	Intron			XP_016859085.1

Gene

WDCP

Gene Name

WD repeat and coiled coil containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142319.1	1123	Missense Mutation	ACG,ATG	T331M	NP_001135791.1
NM_025203.2	1123	Missense Mutation	ACG,ATG	T331M	NP_079479.1
XM_017005029.1	1123	Missense Mutation	ACG,ATG	T331M	XP_016860518.1

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