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SNP ID

rs148174212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48447062 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTCGCGTCACAGGCCCTGAGC[C/T]AATGTCCGGCCGCGGCTCGGGACGT

Phenotype

MIM: 606605 MIM: 615808

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATRIP PubMed Links

Gene Details

Gene

ATRIP

Gene Name

ATR interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271022.1	353	Intron			NP_001257951.1
NM_001271023.1	353	Intron			NP_001257952.1
NM_032166.3	353	Nonsense Mutation	CAA,TAA	Q73*	NP_115542.2
NM_130384.2	353	Nonsense Mutation	CAA,TAA	Q73*	NP_569055.1

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	353	Intron			NP_001243893.1
NM_001256965.2	353	Intron			NP_001243894.1
NM_001256966.2	353	Intron			NP_001243895.1
NM_001256967.2	353	Intron			NP_001243896.1
NM_001256968.2	353	Intron			NP_001243897.1
NM_001256969.2	353	Intron			NP_001243898.1
NM_024661.4	353	Intron			NP_078937.3
XM_011534113.2	353	Intron			XP_011532415.1

Gene

TMA7

Gene Name

translation machinery associated 7 homolog

There are no transcripts associated with this gene.

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