Product Details

SNP ID

rs139267608

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42027127 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTGAGTTGCTTCTGCAAGGCCA[A/G]TTTAGACTACACGGAAAAGAAAGGA

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	1975	Silent Mutation	CTG,TTG	L349L	NP_001229633.1
XM_006721751.3	1975	Silent Mutation	CTG,TTG	L296L	XP_006721814.1
XM_011524475.2	1975	Intron			XP_011522777.1
XM_011524476.1	1975	Intron			XP_011522778.1
XM_011524477.2	1975	Intron			XP_011522779.1
XM_011524478.2	1975	Intron			XP_011522780.1
XM_011524479.2	1975	Silent Mutation	CTG,TTG	L429L	XP_011522781.1
XM_011524482.2	1975	Silent Mutation	CTG,TTG	L428L	XP_011522784.1
XM_011524483.2	1975	Silent Mutation	CTG,TTG	L424L	XP_011522785.1
XM_017024314.1	1975	Silent Mutation	CTG,TTG	L471L	XP_016879803.1
XM_017024315.1	1975	Silent Mutation	CTG,TTG	L471L	XP_016879804.1
XM_017024316.1	1975	Silent Mutation	CTG,TTG	L470L	XP_016879805.1
XM_017024317.1	1975	Silent Mutation	CTG,TTG	L466L	XP_016879806.1
XM_017024318.1	1975	Silent Mutation	CTG,TTG	L465L	XP_016879807.1
XM_017024319.1	1975	Silent Mutation	CTG,TTG	L423L	XP_016879808.1
XM_017024320.1	1975	Silent Mutation	CTG,TTG	L338L	XP_016879809.1
XM_017024321.1	1975	Intron			XP_016879810.1

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