Product Details

SNP ID

rs34749254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67828799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGGCCGGTGGTCCGGGGCCTA[G/T]GGGGATGCCTGACCAACAGAGGCTC

Phenotype

MIM: 611510 MIM: 607720

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CENPT PubMed Links

Gene Details

Gene

CENPT

Gene Name

centromere protein T

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025082.3	1729	Missense Mutation			NP_079358.3
XM_006721277.2	1729	Missense Mutation			XP_006721340.1
XM_011523344.1	1729	Missense Mutation			XP_011521646.1
XM_011523345.1	1729	Missense Mutation			XP_011521647.1
XM_017023712.1	1729	Missense Mutation			XP_016879201.1
XM_017023713.1	1729	Missense Mutation			XP_016879202.1
XM_017023714.1	1729	Missense Mutation			XP_016879203.1
XM_017023715.1	1729	Missense Mutation			XP_016879204.1
XM_017023716.1	1729	Missense Mutation			XP_016879205.1
XM_017023717.1	1729	Missense Mutation			XP_016879206.1

Gene

TSNAXIP1

Gene Name

translin associated factor X interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288990.1	1729	Intron			NP_001275919.1
NM_001288991.1	1729	Intron			NP_001275920.1
NM_001288992.1	1729	Intron			NP_001275921.1
NM_001288993.1	1729	Intron			NP_001275922.1
NM_001288994.1	1729	Intron			NP_001275923.1
NM_018430.3	1729	Intron			NP_060900.2
XM_005256049.4	1729	Intron			XP_005256106.1
XM_011523230.2	1729	Intron			XP_011521532.1
XM_011523231.2	1729	Intron			XP_011521533.1
XM_011523232.2	1729	Intron			XP_011521534.1
XM_011523233.2	1729	Intron			XP_011521535.1
XM_011523234.2	1729	Intron			XP_011521536.1
XM_011523235.1	1729	Intron			XP_011521537.1
XM_011523236.2	1729	Intron			XP_011521538.1
XM_011523237.2	1729	Intron			XP_011521539.1
XM_011523238.1	1729	Intron			XP_011521540.1
XM_011523239.1	1729	Intron			XP_011521541.1
XM_011523240.1	1729	Intron			XP_011521542.1
XM_011523241.1	1729	Intron			XP_011521543.1
XM_011523242.1	1729	Intron			XP_011521544.1
XM_011523243.1	1729	Intron			XP_011521545.1
XM_017023445.1	1729	Intron			XP_016878934.1
XM_017023446.1	1729	Intron			XP_016878935.1
XM_017023447.1	1729	Intron			XP_016878936.1
XM_017023448.1	1729	Intron			XP_016878937.1
XM_017023449.1	1729	Intron			XP_016878938.1
XM_017023450.1	1729	Intron			XP_016878939.1
XM_017023451.1	1729	Intron			XP_016878940.1
XM_017023452.1	1729	Intron			XP_016878941.1
XM_017023453.1	1729	Intron			XP_016878942.1
XM_017023454.1	1729	Intron			XP_016878943.1
XM_017023455.1	1729	Intron			XP_016878944.1

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