Product Details

SNP ID

rs201451654

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:32206161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCGTTCTCCATACCAGGCCTGCG[A/T]CCGGGGCTTCTTGGTCCGACGCCAG

Phenotype

MIM: 610162 MIM: 608676

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC28B PubMed Links

Gene Details

Gene

CCDC28B

Gene Name

coiled-coil domain containing 28B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301011.1	1802	Intron			NP_001287940.1
NM_024296.4	1802	Intron			NP_077272.2
XM_011542113.2	1802	Intron			XP_011540415.1
XM_017002306.1	1802	Intron			XP_016857795.1
XM_017002307.1	1802	Intron			XP_016857796.1
XM_017002308.1	1802	Intron			XP_016857797.1
XM_017002309.1	1802	Intron			XP_016857798.1

Gene

DCDC2B

Gene Name

doublecortin domain containing 2B

There are no transcripts associated with this gene.

Gene

IQCC

Gene Name

IQ motif containing C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160042.1	1802	Missense Mutation	GAC,GTC	D97V	NP_001153514.1
NM_018134.2	1802	Missense Mutation	GAC,GTC	D17V	NP_060604.2

Gene

TMEM234

Gene Name

transmembrane protein 234

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019118.4	1802	Intron			NP_061991.3
XM_011541795.2	1802	UTR 3			XP_011540097.1
XM_017001812.1	1802	Intron			XP_016857301.1
XM_017001813.1	1802	Intron			XP_016857302.1
XM_017001814.1	1802	UTR 3			XP_016857303.1
XM_017001815.1	1802	UTR 3			XP_016857304.1
XM_017001816.1	1802	Intron			XP_016857305.1
XM_017001817.1	1802	UTR 3			XP_016857306.1
XM_017001818.1	1802	UTR 3			XP_016857307.1
XM_017001819.1	1802	UTR 3			XP_016857308.1
XM_017001820.1	1802	Intron			XP_016857309.1
XM_017001821.1	1802	UTR 3			XP_016857310.1
XM_017001822.1	1802	Intron			XP_016857311.1
XM_017001823.1	1802	Intron			XP_016857312.1
XM_017001824.1	1802	Intron			XP_016857313.1
XM_017001825.1	1802	Intron			XP_016857314.1
XM_017001826.1	1802	Intron			XP_016857315.1
XM_017001827.1	1802	UTR 3			XP_016857316.1
XM_017001828.1	1802	UTR 3			XP_016857317.1
XM_017001829.1	1802	Intron			XP_016857318.1
XM_017001830.1	1802	Intron			XP_016857319.1
XM_017001831.1	1802	Intron			XP_016857320.1

Gene

TXLNA

Gene Name

taxilin alpha

There are no transcripts associated with this gene.

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