Product Details

SNP ID

rs200149460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41977301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCAGGACCGCCAAAGAATGCCTT[A/G]AAGATATTGTTTGGATCAAAATCTG

Phenotype

MIM: 123830 MIM: 601964

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CNP PubMed Links

Gene Details

Gene

CNP

Gene Name

2',3'-cyclic nucleotide 3' phosphodiesterase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033133.4	1578	UTR 3			NP_149124.3
XM_006721701.3	1578	Intron			XP_006721764.1
XM_011524340.2	1578	Intron			XP_011522642.1

Gene

DNAJC7

Gene Name

DnaJ heat shock protein family (Hsp40) member C7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144766.2	1578	Silent Mutation	TTC,TTT	F413F	NP_001138238.1
NM_003315.3	1578	Silent Mutation	TTC,TTT	F469F	NP_003306.3
XM_011525167.2	1578	Silent Mutation	TTC,TTT	F413F	XP_011523469.1
XM_011525168.2	1578	Silent Mutation	TTC,TTT	F413F	XP_011523470.1
XM_011525169.2	1578	Intron			XP_011523471.1
XM_017024994.1	1578	Silent Mutation	TTC,TTT	F413F	XP_016880483.1

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