Product Details

SNP ID

rs201627689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:75516834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGCAATGAAAAGACTTGATGTGA[A/G]TGCAGCCGGCATTTGGGAGCCTAAA

Phenotype

MIM: 607680 MIM: 612535

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RCHY1 PubMed Links

Gene Details

Gene

RCHY1

Gene Name

ring finger and CHY zinc finger domain containing 1

There are no transcripts associated with this gene.

Gene

THAP6

Gene Name

THAP domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317791.1	253	Missense Mutation	AAT,AGT	N48S	NP_001304720.1
NM_144721.5	253	Missense Mutation	AAT,AGT	N48S	NP_653322.1
XM_005262772.2	253	Missense Mutation	AAT,AGT	N7S	XP_005262829.1
XM_005262774.3	253	Missense Mutation	AAT,AGT	N48S	XP_005262831.1
XM_006714109.3	253	Missense Mutation	AAT,AGT	N48S	XP_006714172.1
XM_011531666.2	253	Missense Mutation	AAT,AGT	N48S	XP_011529968.1
XM_011531667.2	253	Missense Mutation	AAT,AGT	N48S	XP_011529969.1
XM_017007800.1	253	Missense Mutation	AAT,AGT	N48S	XP_016863289.1
XM_017007801.1	253	Missense Mutation	AAT,AGT	N48S	XP_016863290.1

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