Product Details

SNP ID

rs142685780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42029055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGTGGCTGGAGTGGAGGCCCA[A/G]GAGGAGGGGCTGCAGGAACTGCTGC

Phenotype

MIM: 601964 MIM: 604497

Polymorphism

A/G, 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	1388	Missense Mutation	CCT,CTT	P153L	NP_001229633.1
XM_006721751.3	1388	Missense Mutation	CCT,CTT	P100L	XP_006721814.1
XM_011524475.2	1388	Intron			XP_011522777.1
XM_011524476.1	1388	Intron			XP_011522778.1
XM_011524477.2	1388	Intron			XP_011522779.1
XM_011524478.2	1388	Intron			XP_011522780.1
XM_011524479.2	1388	Missense Mutation	CCT,CTT	P233L	XP_011522781.1
XM_011524482.2	1388	Missense Mutation	CCT,CTT	P232L	XP_011522784.1
XM_011524483.2	1388	Missense Mutation	CCT,CTT	P233L	XP_011522785.1
XM_017024314.1	1388	Missense Mutation	CCT,CTT	P275L	XP_016879803.1
XM_017024315.1	1388	Missense Mutation	CCT,CTT	P275L	XP_016879804.1
XM_017024316.1	1388	Missense Mutation	CCT,CTT	P274L	XP_016879805.1
XM_017024317.1	1388	Missense Mutation	CCT,CTT	P275L	XP_016879806.1
XM_017024318.1	1388	Missense Mutation	CCT,CTT	P274L	XP_016879807.1
XM_017024319.1	1388	Missense Mutation	CCT,CTT	P232L	XP_016879808.1
XM_017024320.1	1388	Missense Mutation	CCT,CTT	P142L	XP_016879809.1
XM_017024321.1	1388	UTR 3			XP_016879810.1

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