Product Details

SNP ID

rs199871476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42028213 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCGGCTCCTCCGGGGAGCCCCT[C/T]GCTGACCTTCCATCATCCACCGGTG

Phenotype

MIM: 601964 MIM: 604497

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJC7 PubMed Links

Gene Details

Gene

DNAJC7

Gene Name

DnaJ heat shock protein family (Hsp40) member C7

There are no transcripts associated with this gene.

Gene

NKIRAS2

Gene Name

NFKB inhibitor interacting Ras like 2

There are no transcripts associated with this gene.

Gene

ZNF385C

Gene Name

zinc finger protein 385C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242704.1	1694	Missense Mutation	CAA,CGA	Q255R	NP_001229633.1
XM_006721751.3	1694	Missense Mutation	CAA,CGA	Q202R	XP_006721814.1
XM_011524475.2	1694	Intron			XP_011522777.1
XM_011524476.1	1694	Intron			XP_011522778.1
XM_011524477.2	1694	Intron			XP_011522779.1
XM_011524478.2	1694	Intron			XP_011522780.1
XM_011524479.2	1694	Missense Mutation	CAA,CGA	Q335R	XP_011522781.1
XM_011524482.2	1694	Missense Mutation	CAA,CGA	Q334R	XP_011522784.1
XM_011524483.2	1694	Missense Mutation	CAA,CGA	Q335R	XP_011522785.1
XM_017024314.1	1694	Missense Mutation	CAA,CGA	Q377R	XP_016879803.1
XM_017024315.1	1694	Missense Mutation	CAA,CGA	Q377R	XP_016879804.1
XM_017024316.1	1694	Missense Mutation	CAA,CGA	Q376R	XP_016879805.1
XM_017024317.1	1694	Missense Mutation	CAA,CGA	Q377R	XP_016879806.1
XM_017024318.1	1694	Missense Mutation	CAA,CGA	Q376R	XP_016879807.1
XM_017024319.1	1694	Missense Mutation	CAA,CGA	Q334R	XP_016879808.1
XM_017024320.1	1694	Missense Mutation	CAA,CGA	Q244R	XP_016879809.1
XM_017024321.1	1694	Intron			XP_016879810.1

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