Product Details

SNP ID

rs62287511

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184372602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGCGTTGGAGCAGAAGGGTCAG[A/G]AAGCAGGGGGTGGAGCTGGACCACA

Phenotype

MIM: 603475 MIM: 606023 MIM: 600044

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHRD PubMed Links

Gene Details

Gene

CHRD

Gene Name

chordin

There are no transcripts associated with this gene.

Gene

POLR2H

Gene Name

RNA polymerase II subunit H

There are no transcripts associated with this gene.

Gene

THPO

Gene Name

thrombopoietin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000460.3	1252	Missense Mutation	CCT,TCT	P325S	NP_000451.1
NM_001177597.2	1252	Missense Mutation	CCT,TCT	P321S	NP_001171068.1
NM_001177598.2	1252	Missense Mutation	TCC,TTC	S319F	NP_001171069.1
NM_001289997.1	1252	Missense Mutation	TCC,TTC	S286F	NP_001276926.1
NM_001289998.1	1252	Missense Mutation	CCT,TCT	P325S	NP_001276927.1
NM_001290003.1	1252	Missense Mutation	CCT,TCT	P465S	NP_001276932.1
NM_001290022.1	1252	Missense Mutation	CCT,TCT	P321S	NP_001276951.1
NM_001290026.1	1252	Missense Mutation	TCC,TTC	S319F	NP_001276955.1
NM_001290027.1	1252	Missense Mutation	TCC,TTC	S286F	NP_001276956.1
NM_001290028.1	1252	Missense Mutation	CCT,TCT	P325S	NP_001276957.1
XM_017007107.1	1252	Missense Mutation	TCC,TTC	S422F	XP_016862596.1

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