Product Details

SNP ID

rs190522280

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184380774 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGCCATTCGGGGTGATGCGCTG[C/T]GTGCTGTGCGCCTGCGAGGCGGTGA

Phenotype

MIM: 603475 MIM: 600044

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHRD PubMed Links

Gene Details

Gene

CHRD

Gene Name

chordin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304472.1	477	Silent Mutation	TGC,TGT	C77C	NP_001291401.1
NM_001304473.1	477	UTR 5			NP_001291402.1
NM_001304474.1	477	UTR 5			NP_001291403.1
NM_003741.3	477	Silent Mutation	TGC,TGT	C77C	NP_003732.2
XM_011513254.1	477	Silent Mutation	TGC,TGT	C77C	XP_011511556.1
XM_011513256.1	477	Intron			XP_011511558.1
XM_017007388.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862877.1
XM_017007389.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862878.1
XM_017007390.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862879.1
XM_017007391.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862880.1
XM_017007392.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862881.1
XM_017007393.1	477	Silent Mutation	TGC,TGT	C77C	XP_016862882.1
XM_017007394.1	477	Intron			XP_016862883.1

Gene

THPO

Gene Name

thrombopoietin

There are no transcripts associated with this gene.

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