Product Details

SNP ID

rs1058384

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48440305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGGCGGCAGGCGCCATGTCCGG[C/T]CGCGAAGGTAAGTGTTCCGGAACCG

Phenotype

MIM: 606605 MIM: 601053 MIM: 615808

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATRIP PubMed Links

Gene Details

Gene

ATRIP

Gene Name

ATR interacting protein

There are no transcripts associated with this gene.

Gene

CCDC51

Gene Name

coiled-coil domain containing 51

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256964.1		Intron			NP_001243893.1
NM_001256965.2		Intron			NP_001243894.1
NM_001256966.2		Intron			NP_001243895.1
NM_001256967.2		Intron			NP_001243896.1
NM_001256968.2		Intron			NP_001243897.1
NM_001256969.2		Intron			NP_001243898.1
NM_024661.4		Intron			NP_078937.3
XM_011534113.2		Intron			XP_011532415.1

Gene

PLXNB1

Gene Name

plexin B1

There are no transcripts associated with this gene.

Gene

TMA7

Gene Name

translation machinery associated 7 homolog

There are no transcripts associated with this gene.

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