Product Details

SNP ID

rs112235071

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:75515860 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTAGTTTACAATCTGAATGAAGGA[A/G]CTTTGCTCGAATATATTGCCCTCTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009922.2		Intron			NP_001009922.1
NM_001278536.1		Intron			NP_001265465.1
NM_001278537.1		Intron			NP_001265466.1
NM_001278538.1		Intron			NP_001265467.1
NM_001278539.1		Intron			NP_001265468.1
NM_015436.3		Intron			NP_056251.2
XM_011531838.2		Intron			XP_011530140.1
XM_011531839.2		Intron			XP_011530141.1

Gene

THAP6

Gene Name

THAP domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317791.1		Intron			NP_001304720.1
NM_144721.5		Intron			NP_653322.1
XM_005262772.2		Intron			XP_005262829.1
XM_005262774.3		Intron			XP_005262831.1
XM_006714109.3		Intron			XP_006714172.1
XM_011531666.2		Intron			XP_011529968.1
XM_011531667.2		Intron			XP_011529969.1
XM_017007800.1		Intron			XP_016863289.1
XM_017007801.1		Intron			XP_016863290.1

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