Product Details

SNP ID

rs151041175

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42027715 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGGCCAGGCGGTCTTTGTGCCTC[C/T]TGCTGCTCATGTGCTAATGGACAGA

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	1871	Missense Mutation	AAG,AGG	K314R	NP_001229633.1
XM_006721751.3	1871	Missense Mutation	AAG,AGG	K261R	XP_006721814.1
XM_011524475.2	1871	Intron			XP_011522777.1
XM_011524476.1	1871	Intron			XP_011522778.1
XM_011524477.2	1871	Intron			XP_011522779.1
XM_011524478.2	1871	Intron			XP_011522780.1
XM_011524479.2	1871	Missense Mutation	AAG,AGG	K394R	XP_011522781.1
XM_011524482.2	1871	Missense Mutation	AAG,AGG	K393R	XP_011522784.1
XM_011524483.2	1871	Missense Mutation	AAG,AGG	K394R	XP_011522785.1
XM_017024314.1	1871	Missense Mutation	AAG,AGG	K436R	XP_016879803.1
XM_017024315.1	1871	Missense Mutation	AAG,AGG	K436R	XP_016879804.1
XM_017024316.1	1871	Missense Mutation	AAG,AGG	K435R	XP_016879805.1
XM_017024317.1	1871	Missense Mutation	AAG,AGG	K436R	XP_016879806.1
XM_017024318.1	1871	Missense Mutation	AAG,AGG	K435R	XP_016879807.1
XM_017024319.1	1871	Missense Mutation	AAG,AGG	K393R	XP_016879808.1
XM_017024320.1	1871	Missense Mutation	AAG,AGG	K303R	XP_016879809.1
XM_017024321.1	1871	Intron			XP_016879810.1

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