Product Details

SNP ID

rs1060212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12891345 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCCGTGCGGCTGCTGAGCCGCG[A/G]ACCCGGCCTGCACGTCCTTCGCACG

Phenotype

MIM: 126350 MIM: 608801 MIM: 600599 MIM: 611487

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNASE2 PubMed Links

Gene Details

Gene

DNASE2

Gene Name

deoxyribonuclease II, lysosomal

There are no transcripts associated with this gene.

Gene

GCDH

Gene Name

glutaryl-CoA dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000159.3	118	Missense Mutation	GAA,GGA	E14G	NP_000150.1
NM_013976.3	118	Missense Mutation	GAA,GGA	E14G	NP_039663.1
XM_006722721.2	118	Missense Mutation	GAA,GGA	E14G	XP_006722784.1
XM_011527899.2	118	Missense Mutation	GAA,GGA	E14G	XP_011526201.1
XM_011527900.2	118	Missense Mutation	GAA,GGA	E14G	XP_011526202.1
XM_017026580.1	118	Missense Mutation	GAA,GGA	E14G	XP_016882069.1

Gene

KLF1

Gene Name

Kruppel like factor 1

There are no transcripts associated with this gene.

Gene

SYCE2

Gene Name

synaptonemal complex central element protein 2

There are no transcripts associated with this gene.

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